Canonical Allele Identifier: CA353561919

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69959293G>A , CM000665.2:g.69959293G>A	GRCh38
NC_000003.11:g.70008444G>A , CM000665.1:g.70008444G>A	GRCh37
NC_000003.10:g.70091134G>A	NCBI36
NG_011631.1:g.224812G>A , LRG_776:g.224812G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.1052G>A MANE Select	NP_001341533.1:p.Gly351Glu
ENST00000352241.9:c.1052G>A MANE Select	ENSP00000295600.8:p.Gly351Glu
NM_000248.4:c.731G>A MANE Plus Clinical	NP_000239.1:p.Gly244Glu
ENST00000394351.9:c.731G>A MANE Plus Clinical	ENSP00000377880.3:p.Gly244Glu
NM_000248.3:c.731G>A , LRG_776t1:c.731G>A	NP_000239.1:p.Gly244Glu
NM_001184967.1:c.878G>A	NP_001171896.1:p.Gly293Glu
NM_001184967.2:c.878G>A	NP_001171896.1:p.Gly293Glu
NM_001354604.1:c.1052G>A	NP_001341533.1:p.Gly351Glu
NM_001354605.1:c.1049G>A	NP_001341534.1:p.Gly350Glu
NM_001354605.2:c.1049G>A	NP_001341534.1:p.Gly350Glu
NM_001354606.1:c.1031G>A	NP_001341535.1:p.Gly344Glu
NM_001354606.2:c.1031G>A	NP_001341535.1:p.Gly344Glu
NM_001354607.1:c.983G>A	NP_001341536.1:p.Gly328Glu
NM_001354607.2:c.983G>A	NP_001341536.1:p.Gly328Glu
NM_001354608.1:c.878G>A	NP_001341537.1:p.Gly293Glu
NM_001354608.2:c.878G>A	NP_001341537.1:p.Gly293Glu
NM_006722.2:c.1031G>A	NP_006713.1:p.Gly344Glu
NM_006722.3:c.1031G>A	NP_006713.1:p.Gly344Glu
NM_198158.2:c.713G>A	NP_937801.1:p.Gly238Glu
NM_198158.3:c.713G>A	NP_937801.1:p.Gly238Glu
NM_198159.2:c.1034G>A	NP_937802.1:p.Gly345Glu
NM_198159.3:c.1034G>A	NP_937802.1:p.Gly345Glu
NM_198177.2:c.986G>A	NP_937820.1:p.Gly329Glu
NM_198177.3:c.986G>A	NP_937820.1:p.Gly329Glu
NM_198178.2:c.545G>A	NP_937821.2:p.Gly182Glu
NM_198178.3:c.545G>A	NP_937821.2:p.Gly182Glu
ENST00000314557.10:c.713G>A	ENSP00000324246.6:p.Gly238Glu
ENST00000314589.10:c.986G>A	ENSP00000324443.5:p.Gly329Glu
ENST00000314589.11:c.986G>A	ENSP00000324443.5:p.Gly329Glu
ENST00000314589.9:c.986G>A	ENSP00000324443.5:p.Gly329Glu
ENST00000328528.10:c.1031G>A	ENSP00000327867.6:p.Gly344Glu
ENST00000352241.8:c.1034G>A	ENSP00000295600.7:p.Gly345Glu
ENST00000394351.7:c.731G>A	ENSP00000377880.3:p.Gly244Glu
ENST00000448226.6:c.1052G>A	ENSP00000391803.2:p.Gly351Glu
ENST00000448226.9:c.1031G>A	ENSP00000391803.3:p.Gly344Glu
ENST00000451708.5:c.1004G>A	ENSP00000398639.1:p.Gly335Glu
ENST00000472437.5:c.878G>A	ENSP00000418845.1:p.Gly293Glu
ENST00000478490.5:c.*378G>A	ENSP00000433487.1:n.*378G>A
ENST00000531774.1:c.545G>A	ENSP00000435909.1:p.Gly182Glu
ENST00000642352.1:c.1034G>A	ENSP00000494105.1:p.Gly345Glu
ENST00000687384.1:c.983G>A	ENSP00000510225.1:p.Gly328Glu
ENST00000689390.1:n.1208G>A
ENST00000693031.1:c.959G>A	ENSP00000509845.1:p.Gly320Glu
ENST00000693549.1:c.986G>A	ENSP00000509358.1:p.Gly329Glu
XM_005264754.1:c.1052G>A	XP_005264811.1:p.Gly351Glu
XM_005264755.2:c.1004G>A	XP_005264812.1:p.Gly335Glu
XM_006713164.2:c.896G>A	XP_006713227.1:p.Gly299Glu
XM_011533722.1:c.1049G>A	XP_011532024.1:p.Gly350Glu
XM_011533723.1:c.1001G>A	XP_011532025.1:p.Gly334Glu
XM_011533724.1:c.896G>A	XP_011532026.1:p.Gly299Glu
XM_011533725.1:c.884G>A	XP_011532027.1:p.Gly295Glu
XM_011533726.1:c.866G>A	XP_011532028.1:p.Gly289Glu