Canonical Allele Identifier: CA1373413876
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964866G= , CM000665.2:g.69964866G= GRCh38
NC_000003.11:g.70014017G= , CM000665.1:g.70014017G= GRCh37
NC_000003.10:g.70096707G= NCBI36
NG_011631.1:g.230385G= , LRG_776:g.230385G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1133G= ENSP00000324443.5:p.Arg378=
ENST00000687384.1:c.1130G= ENSP00000510225.1:p.Arg377=
ENST00000689390.1:n.1355G=
ENST00000693031.1:c.1106G= ENSP00000509845.1:p.Arg369=
ENST00000693549.1:c.1114-48G= ENSP00000509358.1:n.1114-48G=
ENST00000314589.10:c.1133G= ENSP00000324443.5:p.Arg378=
ENST00000352241.9:c.1199G= MANE Select ENSP00000295600.8:p.Arg400=
ENST00000394351.9:c.878G= MANE Plus Clinical ENSP00000377880.3:p.Arg293=
ENST00000448226.9:c.1178G= ENSP00000391803.3:p.Arg393=
ENST00000642352.1:c.1181G= ENSP00000494105.1:p.Arg394=
ENST00000314557.10:c.860G= ENSP00000324246.6:p.Arg287=
ENST00000314589.9:c.1133G= ENSP00000324443.5:p.Arg378=
ENST00000328528.10:c.1178G= ENSP00000327867.6:p.Arg393=
ENST00000352241.8:c.1181G= ENSP00000295600.7:p.Arg394=
ENST00000394351.7:c.878G= ENSP00000377880.3:p.Arg293=
ENST00000448226.6:c.1199G= ENSP00000391803.2:p.Arg400=
ENST00000472437.5:c.1025G= ENSP00000418845.1:p.Arg342=
ENST00000478490.5:c.*525G= ENSP00000433487.1:n.*525G=
ENST00000531774.1:c.692G= ENSP00000435909.1:p.Arg231=
NM_000248.3:c.878G= , LRG_776t1:c.878G= NP_000239.1:p.Arg293=
NM_001184967.1:c.1025G= NP_001171896.1:p.Arg342=
NM_006722.2:c.1178G= NP_006713.1:p.Arg393=
NM_198158.2:c.860G= NP_937801.1:p.Arg287=
NM_198159.2:c.1181G= NP_937802.1:p.Arg394=
NM_198177.2:c.1133G= NP_937820.1:p.Arg378=
NM_198178.2:c.692G= NP_937821.2:p.Arg231=
XM_005264754.1:c.1199G= XP_005264811.1:p.Arg400=
XM_005264755.2:c.1151G= XP_005264812.1:p.Arg384=
XM_006713164.2:c.1043G= XP_006713227.1:p.Arg348=
XM_011533722.1:c.1196G= XP_011532024.1:p.Arg399=
XM_011533723.1:c.1148G= XP_011532025.1:p.Arg383=
XM_011533724.1:c.1043G= XP_011532026.1:p.Arg348=
XM_011533725.1:c.1031G= XP_011532027.1:p.Arg344=
XM_011533726.1:c.1013G= XP_011532028.1:p.Arg338=
NM_001354604.1:c.1199G= NP_001341533.1:p.Arg400=
NM_001354605.1:c.1196G= NP_001341534.1:p.Arg399=
NM_001354606.1:c.1178G= NP_001341535.1:p.Arg393=
NM_001354607.1:c.1130G= NP_001341536.1:p.Arg377=
NM_001354608.1:c.1025G= NP_001341537.1:p.Arg342=
NM_001184967.2:c.1025G= NP_001171896.1:p.Arg342=
NM_001354604.2:c.1199G= MANE Select NP_001341533.1:p.Arg400=
NM_001354605.2:c.1196G= NP_001341534.1:p.Arg399=
NM_001354606.2:c.1178G= NP_001341535.1:p.Arg393=
NM_001354607.2:c.1130G= NP_001341536.1:p.Arg377=
NM_001354608.2:c.1025G= NP_001341537.1:p.Arg342=
NM_198158.3:c.860G= NP_937801.1:p.Arg287=
NM_198159.3:c.1181G= NP_937802.1:p.Arg394=
NM_198177.3:c.1133G= NP_937820.1:p.Arg378=
NM_198178.3:c.692G= NP_937821.2:p.Arg231=
NM_000248.4:c.878G= MANE Plus Clinical NP_000239.1:p.Arg293=
NM_006722.3:c.1178G= NP_006713.1:p.Arg393=