Canonical Allele Identifier: CA353559364
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964874G>T , CM000665.2:g.69964874G>T GRCh38
NC_000003.11:g.70014025G>T , CM000665.1:g.70014025G>T GRCh37
NC_000003.10:g.70096715G>T NCBI36
NG_011631.1:g.230393G>T , LRG_776:g.230393G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1141G>T ENSP00000324443.5:p.Gly381Ter
ENST00000687384.1:c.1138G>T ENSP00000510225.1:p.Gly380Ter
ENST00000689390.1:n.1363G>T
ENST00000693031.1:c.1114G>T ENSP00000509845.1:p.Gly372Ter
ENST00000693549.1:c.1114-40G>T ENSP00000509358.1:n.1114-40G>T
ENST00000314589.10:c.1141G>T ENSP00000324443.5:p.Gly381Ter
ENST00000352241.9:c.1207G>T MANE Select ENSP00000295600.8:p.Gly403Ter
ENST00000394351.9:c.886G>T MANE Plus Clinical ENSP00000377880.3:p.Gly296Ter
ENST00000448226.9:c.1186G>T ENSP00000391803.3:p.Gly396Ter
ENST00000642352.1:c.1189G>T ENSP00000494105.1:p.Gly397Ter
ENST00000314557.10:c.868G>T ENSP00000324246.6:p.Gly290Ter
ENST00000314589.9:c.1141G>T ENSP00000324443.5:p.Gly381Ter
ENST00000328528.10:c.1186G>T ENSP00000327867.6:p.Gly396Ter
ENST00000352241.8:c.1189G>T ENSP00000295600.7:p.Gly397Ter
ENST00000394351.7:c.886G>T ENSP00000377880.3:p.Gly296Ter
ENST00000448226.6:c.1207G>T ENSP00000391803.2:p.Gly403Ter
ENST00000472437.5:c.1033G>T ENSP00000418845.1:p.Gly345Ter
ENST00000478490.5:c.*533G>T ENSP00000433487.1:n.*533G>T
ENST00000531774.1:c.700G>T ENSP00000435909.1:p.Gly234Ter
NM_000248.3:c.886G>T , LRG_776t1:c.886G>T NP_000239.1:p.Gly296Ter
NM_001184967.1:c.1033G>T NP_001171896.1:p.Gly345Ter
NM_006722.2:c.1186G>T NP_006713.1:p.Gly396Ter
NM_198158.2:c.868G>T NP_937801.1:p.Gly290Ter
NM_198159.2:c.1189G>T NP_937802.1:p.Gly397Ter
NM_198177.2:c.1141G>T NP_937820.1:p.Gly381Ter
NM_198178.2:c.700G>T NP_937821.2:p.Gly234Ter
XM_005264754.1:c.1207G>T XP_005264811.1:p.Gly403Ter
XM_005264755.2:c.1159G>T XP_005264812.1:p.Gly387Ter
XM_006713164.2:c.1051G>T XP_006713227.1:p.Gly351Ter
XM_011533722.1:c.1204G>T XP_011532024.1:p.Gly402Ter
XM_011533723.1:c.1156G>T XP_011532025.1:p.Gly386Ter
XM_011533724.1:c.1051G>T XP_011532026.1:p.Gly351Ter
XM_011533725.1:c.1039G>T XP_011532027.1:p.Gly347Ter
XM_011533726.1:c.1021G>T XP_011532028.1:p.Gly341Ter
NM_001354604.1:c.1207G>T NP_001341533.1:p.Gly403Ter
NM_001354605.1:c.1204G>T NP_001341534.1:p.Gly402Ter
NM_001354606.1:c.1186G>T NP_001341535.1:p.Gly396Ter
NM_001354607.1:c.1138G>T NP_001341536.1:p.Gly380Ter
NM_001354608.1:c.1033G>T NP_001341537.1:p.Gly345Ter
NM_001184967.2:c.1033G>T NP_001171896.1:p.Gly345Ter
NM_001354604.2:c.1207G>T MANE Select NP_001341533.1:p.Gly403Ter
NM_001354605.2:c.1204G>T NP_001341534.1:p.Gly402Ter
NM_001354606.2:c.1186G>T NP_001341535.1:p.Gly396Ter
NM_001354607.2:c.1138G>T NP_001341536.1:p.Gly380Ter
NM_001354608.2:c.1033G>T NP_001341537.1:p.Gly345Ter
NM_198158.3:c.868G>T NP_937801.1:p.Gly290Ter
NM_198159.3:c.1189G>T NP_937802.1:p.Gly397Ter
NM_198177.3:c.1141G>T NP_937820.1:p.Gly381Ter
NM_198178.3:c.700G>T NP_937821.2:p.Gly234Ter
NM_000248.4:c.886G>T MANE Plus Clinical NP_000239.1:p.Gly296Ter
NM_006722.3:c.1186G>T NP_006713.1:p.Gly396Ter