Canonical Allele Identifier: CA392087809
Community Standard Title: NM_024956.4(TMEM62):c.1306C>T (p.Leu436Phe)
Gene: TMEM62 HGNC NCBI
EPB42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43169602C>T , CM000677.2:g.43169602C>T GRCh38
NC_000015.9:g.43461800C>T , CM000677.1:g.43461800C>T GRCh37
NC_000015.8:g.41249092C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_024956.4:c.1306C>T (TMEM62) MANE Select NP_079232.3:p.Leu436Phe
ENST00000260403.7:c.1306C>T (TMEM62) MANE Select ENSP00000260403.2:p.Leu436Phe
NM_001347004.1:c.916C>T (TMEM62) NP_001333933.1:p.Leu306Phe
NM_001347005.1:c.916C>T (TMEM62) NP_001333934.1:p.Leu306Phe
NM_001347005.2:c.916C>T (TMEM62) NP_001333934.1:p.Leu306Phe
NM_001347006.1:c.916C>T (TMEM62) NP_001333935.1:p.Leu306Phe
NM_001347006.2:c.916C>T (TMEM62) NP_001333935.1:p.Leu306Phe
NM_001347007.1:c.916C>T (TMEM62) NP_001333936.1:p.Leu306Phe
NM_001347007.2:c.916C>T (TMEM62) NP_001333936.1:p.Leu306Phe
NM_001347008.1:c.910C>T (TMEM62) NP_001333937.1:p.Leu304Phe
NM_001347009.1:c.910C>T (TMEM62) NP_001333938.1:p.Leu304Phe
NM_001347010.1:c.910C>T (TMEM62) NP_001333939.1:p.Leu304Phe
NM_001347010.2:c.910C>T (TMEM62) NP_001333939.1:p.Leu304Phe
NM_001347011.1:c.910C>T (TMEM62) NP_001333940.1:p.Leu304Phe
NM_001347011.2:c.910C>T (TMEM62) NP_001333940.1:p.Leu304Phe
NM_001347012.1:c.910C>T (TMEM62) NP_001333941.1:p.Leu304Phe
NM_001347012.2:c.910C>T (TMEM62) NP_001333941.1:p.Leu304Phe
NM_001347013.1:c.910C>T (TMEM62) NP_001333942.1:p.Leu304Phe
NM_001347013.2:c.910C>T (TMEM62) NP_001333942.1:p.Leu304Phe
NM_001347014.1:c.916C>T (TMEM62) NP_001333943.1:p.Leu306Phe
NM_001347015.1:c.916C>T (TMEM62) NP_001333944.1:p.Leu306Phe
NM_001347015.2:c.916C>T (TMEM62) NP_001333944.1:p.Leu306Phe
NM_001347016.1:c.916C>T (TMEM62) NP_001333945.1:p.Leu306Phe
NM_001347016.2:c.916C>T (TMEM62) NP_001333945.1:p.Leu306Phe
NM_001347017.1:c.910C>T (TMEM62) NP_001333946.1:p.Leu304Phe
NM_001347017.2:c.910C>T (TMEM62) NP_001333946.1:p.Leu304Phe
NM_001347018.1:c.910C>T (TMEM62) NP_001333947.1:p.Leu304Phe
NM_001347018.2:c.910C>T (TMEM62) NP_001333947.1:p.Leu304Phe
NM_001347019.1:c.691C>T (TMEM62) NP_001333948.1:p.Leu231Phe
NM_001347020.1:c.691C>T (TMEM62) NP_001333949.1:p.Leu231Phe
NM_001347020.2:c.691C>T (TMEM62) NP_001333949.1:p.Leu231Phe
NM_001347021.1:c.691C>T (TMEM62) NP_001333950.1:p.Leu231Phe
NM_001347021.2:c.691C>T (TMEM62) NP_001333950.1:p.Leu231Phe
NM_001347023.1:c.691C>T (TMEM62) NP_001333952.1:p.Leu231Phe
NM_001347023.2:c.691C>T (TMEM62) NP_001333952.1:p.Leu231Phe
NM_001347024.1:c.691C>T (TMEM62) NP_001333953.1:p.Leu231Phe
NM_001347025.1:c.691C>T (TMEM62) NP_001333954.1:p.Leu231Phe
NM_001347026.1:c.691C>T (TMEM62) NP_001333955.1:p.Leu231Phe
NM_001347026.2:c.691C>T (TMEM62) NP_001333955.1:p.Leu231Phe
NM_001347027.1:c.691C>T (TMEM62) NP_001333956.1:p.Leu231Phe
NM_001347027.2:c.691C>T (TMEM62) NP_001333956.1:p.Leu231Phe
NM_001347028.1:c.691C>T (TMEM62) NP_001333957.1:p.Leu231Phe
NM_001347028.2:c.691C>T (TMEM62) NP_001333957.1:p.Leu231Phe
NM_001347029.1:c.691C>T (TMEM62) NP_001333958.1:p.Leu231Phe
NM_001347029.2:c.691C>T (TMEM62) NP_001333958.1:p.Leu231Phe
NM_001347030.1:c.649C>T (TMEM62) NP_001333959.1:p.Leu217Phe
NM_001347031.1:c.1039C>T (TMEM62) NP_001333960.1:p.Leu347Phe
NM_001347031.2:c.1039C>T (TMEM62) NP_001333960.1:p.Leu347Phe
NM_001347032.1:c.1306C>T (TMEM62) NP_001333961.1:p.Leu436Phe
NM_001347032.2:c.1306C>T (TMEM62) NP_001333961.1:p.Leu436Phe
NM_001347033.1:c.1039C>T (TMEM62) NP_001333962.1:p.Leu347Phe
NM_001347033.2:c.1039C>T (TMEM62) NP_001333962.1:p.Leu347Phe
NM_001347034.1:c.682C>T (TMEM62) NP_001333963.1:p.Leu228Phe
NM_001347034.2:c.682C>T (TMEM62) NP_001333963.1:p.Leu228Phe
NM_024956.3:c.1306C>T (TMEM62) NP_079232.3:p.Leu436Phe
NR_144541.1:n.1335C>T (TMEM62)
NR_144542.1:n.1506C>T (TMEM62)
NR_144542.2:n.1444C>T (TMEM62)
NR_144543.1:n.1538C>T (TMEM62)
NR_144543.2:n.1476C>T (TMEM62)
NR_144544.1:n.1460C>T (TMEM62)
NR_144544.2:n.1398C>T (TMEM62)
ENST00000260403.6:c.1306C>T (TMEM62) ENSP00000260403.2:p.Leu436Phe
ENST00000563859.5:n.411C>T (TMEM62)
ENST00000564494.1:c.1101C>T (TMEM62)
ENST00000566308.1:n.482C>T (TMEM62)
ENST00000569369.1:n.149C>T (TMEM62)
ENST00000570199.1:n.94+10243G>A (EPB42)
XM_005254682.3:c.910C>T (TMEM62) XP_005254739.1:p.Leu304Phe
XM_005254683.3:c.910C>T (TMEM62) XP_005254740.1:p.Leu304Phe
XM_005254684.2:c.691C>T (TMEM62) XP_005254741.1:p.Leu231Phe
XM_011522071.1:c.916C>T (TMEM62) XP_011520373.1:p.Leu306Phe
XM_011522072.1:c.910C>T (TMEM62) XP_011520374.1:p.Leu304Phe
XM_011522073.1:c.682C>T (TMEM62) XP_011520375.1:p.Leu228Phe
XM_011522074.1:c.658C>T (TMEM62) XP_011520376.1:p.Leu220Phe
XM_011522074.2:c.658C>T (TMEM62) XP_011520376.1:p.Leu220Phe
XM_024450071.1:c.649C>T (TMEM62) XP_024305839.1:p.Leu217Phe