Canonical Allele Identifier: CA7234063
Community Standard Title: NM_020806.5(GPHN):c.1336A>G (p.Thr446Ala)
Gene: GPHN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67110182A>G , CM000676.2:g.67110182A>G GRCh38
NC_000014.8:g.67576899A>G , CM000676.1:g.67576899A>G GRCh37
NC_000014.7:g.66646652A>G NCBI36
NG_008875.1:g.607775A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020806.5:c.1336A>G MANE Select NP_065857.1:p.Thr446Ala
ENST00000478722.6:c.1336A>G MANE Select ENSP00000417901.1:p.Thr446Ala
NM_001024218.1:c.1237A>G NP_001019389.1:p.Thr413Ala
NM_001024218.2:c.1237A>G NP_001019389.1:p.Thr413Ala
NM_001377514.1:c.1396A>G NP_001364443.1:p.Thr466Ala
NM_001377515.1:c.1366A>G NP_001364444.1:p.Thr456Ala
NM_001377516.1:c.1357A>G NP_001364445.1:p.Thr453Ala
NM_001377517.1:c.1309A>G NP_001364446.1:p.Thr437Ala
NM_001377518.1:c.1294A>G NP_001364447.1:p.Thr432Ala
NM_001377519.1:c.1276A>G NP_001364448.1:p.Thr426Ala
NM_020806.4:c.1336A>G NP_065857.1:p.Thr446Ala
ENST00000315266.9:c.1237A>G ENSP00000312771.5:p.Thr413Ala
ENST00000478722.5:c.1336A>G ENSP00000417901.1:p.Thr446Ala
ENST00000543237.5:c.1375A>G ENSP00000438404.1:p.Thr459Ala
ENST00000544752.6:n.1384A>G
ENST00000556501.1:n.330A>G
XM_005267254.2:c.1294A>G XP_005267311.1:p.Thr432Ala
XM_005267254.4:c.1294A>G XP_005267311.1:p.Thr432Ala
XM_011536340.1:c.1504A>G XP_011534642.1:p.Thr502Ala
XM_011536340.3:c.1504A>G XP_011534642.1:p.Thr502Ala
XM_011536342.1:c.1465A>G XP_011534644.1:p.Thr489Ala
XM_011536342.3:c.1465A>G XP_011534644.1:p.Thr489Ala
XM_011536343.1:c.1432A>G XP_011534645.1:p.Thr478Ala
XM_011536343.3:c.1432A>G XP_011534645.1:p.Thr478Ala
XM_011536344.1:c.1405A>G XP_011534646.1:p.Thr469Ala
XM_011536344.3:c.1405A>G XP_011534646.1:p.Thr469Ala
XM_011536345.1:c.1375A>G XP_011534647.1:p.Thr459Ala
XM_011536345.3:c.1375A>G XP_011534647.1:p.Thr459Ala
XM_011536346.1:c.1366A>G XP_011534648.1:p.Thr456Ala
XM_011536346.3:c.1366A>G XP_011534648.1:p.Thr456Ala
XM_011536347.1:c.1276A>G XP_011534649.1:p.Thr426Ala
XM_011536347.2:c.1276A>G XP_011534649.1:p.Thr426Ala
XM_011536348.1:c.487A>G XP_011534650.1:p.Thr163Ala
XM_017020913.2:c.1495A>G XP_016876402.1:p.Thr499Ala
XM_017020914.2:c.1447A>G XP_016876403.1:p.Thr483Ala
XM_017020915.2:c.1396A>G XP_016876404.1:p.Thr466Ala
XM_017020916.2:c.1357A>G XP_016876405.1:p.Thr453Ala
XM_017020917.2:c.1348A>G XP_016876406.1:p.Thr450Ala
XM_017020918.2:c.1333A>G XP_016876407.1:p.Thr445Ala
XM_017020919.2:c.1309A>G XP_016876408.1:p.Thr437Ala
XM_017020920.2:c.1195A>G XP_016876409.1:p.Thr399Ala
XM_017020921.1:c.1135A>G XP_016876410.1:p.Thr379Ala
XM_017020922.1:c.1135A>G XP_016876411.1:p.Thr379Ala
XM_017020923.1:c.1006A>G XP_016876412.1:p.Thr336Ala
XM_017020924.1:c.487A>G XP_016876413.1:p.Thr163Ala
XM_017020925.2:c.1312+51396A>G XP_016876414.1:n.1312+51396A>G
XM_017020926.1:c.415A>G XP_016876415.1:p.Thr139Ala
XR_001750989.2:n.3101-1720T>C
XR_001750990.1:n.177-1720T>C
XR_943947.1:n.214-1720T>C
XR_943948.1:n.884-1720T>C