Canonical Allele Identifier: CA3633330
Community Standard Title: NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10764565C>G , CM000668.2:g.10764565C>G GRCh38
NC_000006.11:g.10764798C>G , CM000668.1:g.10764798C>G GRCh37
NC_000006.10:g.10872784C>G NCBI36
NG_030040.1:g.78991G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001242957.3:c.1834G>C (MAK) MANE Select NP_001229886.1:p.Gly612Arg
ENST00000354489.7:c.1834G>C (MAK) MANE Select ENSP00000346484.3:p.Gly612Arg
NM_001242385.1:c.1639G>C (MAK) NP_001229314.1:p.Gly547Arg
NM_001242385.2:c.1639G>C (MAK) NP_001229314.1:p.Gly547Arg
NM_001242957.1:c.1834G>C (MAK) NP_001229886.1:p.Gly612Arg
NM_001242957.2:c.1834G>C (MAK) NP_001229886.1:p.Gly612Arg
NM_001377262.1:c.1537G>C (MAK) NP_001364191.1:p.Gly513Arg
NM_005906.4:c.1759G>C (MAK) NP_005897.1:p.Gly587Arg
NM_005906.5:c.1759G>C (MAK) NP_005897.1:p.Gly587Arg
NM_005906.6:c.1759G>C (MAK) NP_005897.1:p.Gly587Arg
NR_134935.1:n.2146G>C (MAK)
NR_134935.2:n.2130G>C (MAK)
NR_134936.1:n.2302G>C (MAK)
NR_134936.2:n.2358G>C (MAK)
ENST00000313243.6:c.1759G>C (MAK) ENSP00000313021.2:p.Gly587Arg
ENST00000354489.6:c.1834G>C (MAK) ENSP00000346484.3:p.Gly612Arg
ENST00000460341.5:c.101-5512C>G (TMEM14B) ENSP00000417095.1:n.101-5512C>G
ENST00000463100.5:c.101-5512C>G (TMEM14B) ENSP00000419806.1:n.101-5512C>G
ENST00000463448.5:c.101-5512C>G (TMEM14B) ENSP00000419208.1:n.101-5512C>G
ENST00000467229.1:c.157-5512C>G (TMEM14B)
ENST00000473166.5:c.101-5512C>G (TMEM14B) ENSP00000417416.1:n.101-5512C>G
ENST00000473807.5:c.101-5512C>G (TMEM14B) ENSP00000419156.1:n.101-5512C>G
ENST00000474039.5:c.1759G>C (MAK) ENSP00000476067.1:p.Gly587Arg
ENST00000478732.1:c.137-5512C>G (TMEM14B) ENSP00000418927.1:n.137-5512C>G
ENST00000480294.1:c.100+14867C>G ENSP00000417929.1:n.100+14867C>G
ENST00000536370.5:c.1639G>C (MAK) ENSP00000442221.2:p.Gly547Arg
ENST00000536370.6:c.1639G>C (MAK) ENSP00000442221.2:p.Gly547Arg
ENST00000538030.2:c.*490G>C (MAK) ENSP00000442250.1:n.*490G>C
ENST00000538030.3:c.*490G>C (MAK) ENSP00000442250.1:n.*490G>C
ENST00000675026.1:c.*425G>C (MAK) ENSP00000502542.1:n.*425G>C
ENST00000676116.1:c.1537G>C (MAK) ENSP00000502045.1:p.Gly513Arg
XM_011514619.1:c.1834G>C (MAK) XP_011512921.1:p.Gly612Arg
XM_011514619.2:c.1834G>C (MAK) XP_011512921.1:p.Gly612Arg
XM_011514620.1:c.1834G>C (MAK) XP_011512922.1:p.Gly612Arg
XM_011514620.2:c.1834G>C (MAK) XP_011512922.1:p.Gly612Arg
XM_011514621.1:c.1777G>C (MAK) XP_011512923.1:p.Gly593Arg
XM_011514621.2:c.1777G>C (MAK) XP_011512923.1:p.Gly593Arg
XM_011514622.1:c.1639G>C (MAK) XP_011512924.1:p.Gly547Arg
XM_011514622.3:c.1639G>C (MAK) XP_011512924.1:p.Gly547Arg
XM_011514623.1:c.1267G>C (MAK) XP_011512925.1:p.Gly423Arg
XM_011514624.1:c.1054G>C (MAK) XP_011512926.1:p.Gly352Arg
XM_011514624.2:c.1054G>C (MAK) XP_011512926.1:p.Gly352Arg
XM_017010863.2:c.1834G>C (MAK) XP_016866352.1:p.Gly612Arg
XM_017010864.2:c.1759G>C (MAK) XP_016866353.1:p.Gly587Arg
XM_017010865.1:c.1582G>C (MAK) XP_016866354.1:p.Gly528Arg
XM_024446443.1:c.1267G>C (MAK) XP_024302211.1:p.Gly423Arg
XR_926215.1:n.2329G>C (MAK)
XR_926215.3:n.2267G>C (MAK)
XR_926219.1:n.2196G>C (MAK)