Canonical Allele Identifier: CA1373414104

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964982C= , CM000665.2:g.69964982C=	GRCh38
NC_000003.11:g.70014133C= , CM000665.1:g.70014133C=	GRCh37
NC_000003.10:g.70096823C=	NCBI36
NG_011631.1:g.230501C= , LRG_776:g.230501C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1249C=	ENSP00000324443.5:p.His417=
ENST00000687384.1:c.1246C=	ENSP00000510225.1:p.His416=
ENST00000689390.1:n.1471C=
ENST00000693031.1:c.1222C=	ENSP00000509845.1:p.His408=
ENST00000693549.1:c.*60C=	ENSP00000509358.1:n.*60C=
ENST00000314589.10:c.1249C=	ENSP00000324443.5:p.His417=
ENST00000352241.9:c.1315C= MANE Select	ENSP00000295600.8:p.His439=
ENST00000394351.9:c.994C= MANE Plus Clinical	ENSP00000377880.3:p.His332=
ENST00000448226.9:c.1294C=	ENSP00000391803.3:p.His432=
ENST00000642352.1:c.1297C=	ENSP00000494105.1:p.His433=
ENST00000314557.10:c.976C=	ENSP00000324246.6:p.His326=
ENST00000314589.9:c.1249C=	ENSP00000324443.5:p.His417=
ENST00000328528.10:c.1294C=	ENSP00000327867.6:p.His432=
ENST00000352241.8:c.1297C=	ENSP00000295600.7:p.His433=
ENST00000394351.7:c.994C=	ENSP00000377880.3:p.His332=
ENST00000448226.6:c.1315C=	ENSP00000391803.2:p.His439=
ENST00000472437.5:c.1141C=	ENSP00000418845.1:p.His381=
ENST00000478490.5:c.*641C=	ENSP00000433487.1:n.*641C=
ENST00000531774.1:c.808C=	ENSP00000435909.1:p.His270=
NM_000248.3:c.994C= , LRG_776t1:c.994C=	NP_000239.1:p.His332=
NM_001184967.1:c.1141C=	NP_001171896.1:p.His381=
NM_006722.2:c.1294C=	NP_006713.1:p.His432=
NM_198158.2:c.976C=	NP_937801.1:p.His326=
NM_198159.2:c.1297C=	NP_937802.1:p.His433=
NM_198177.2:c.1249C=	NP_937820.1:p.His417=
NM_198178.2:c.808C=	NP_937821.2:p.His270=
XM_005264754.1:c.1315C=	XP_005264811.1:p.His439=
XM_005264755.2:c.1267C=	XP_005264812.1:p.His423=
XM_006713164.2:c.1159C=	XP_006713227.1:p.His387=
XM_011533722.1:c.1312C=	XP_011532024.1:p.His438=
XM_011533723.1:c.1264C=	XP_011532025.1:p.His422=
XM_011533724.1:c.1159C=	XP_011532026.1:p.His387=
XM_011533725.1:c.1147C=	XP_011532027.1:p.His383=
XM_011533726.1:c.1129C=	XP_011532028.1:p.His377=
NM_001354604.1:c.1315C=	NP_001341533.1:p.His439=
NM_001354605.1:c.1312C=	NP_001341534.1:p.His438=
NM_001354606.1:c.1294C=	NP_001341535.1:p.His432=
NM_001354607.1:c.1246C=	NP_001341536.1:p.His416=
NM_001354608.1:c.1141C=	NP_001341537.1:p.His381=
NM_001184967.2:c.1141C=	NP_001171896.1:p.His381=
NM_001354604.2:c.1315C= MANE Select	NP_001341533.1:p.His439=
NM_001354605.2:c.1312C=	NP_001341534.1:p.His438=
NM_001354606.2:c.1294C=	NP_001341535.1:p.His432=
NM_001354607.2:c.1246C=	NP_001341536.1:p.His416=
NM_001354608.2:c.1141C=	NP_001341537.1:p.His381=
NM_198158.3:c.976C=	NP_937801.1:p.His326=
NM_198159.3:c.1297C=	NP_937802.1:p.His433=
NM_198177.3:c.1249C=	NP_937820.1:p.His417=
NM_198178.3:c.808C=	NP_937821.2:p.His270=
NM_000248.4:c.994C= MANE Plus Clinical	NP_000239.1:p.His332=
NM_006722.3:c.1294C=	NP_006713.1:p.His432=