Canonical Allele Identifier: CA353559894

Gene: MITF

Linked Data

• dbSNP Id: rs2066655976
• MyVariant Identifiers: chr3:g.70014278A>C (hg19) ; chr3:g.69965127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965127A>C , CM000665.2:g.69965127A>C	GRCh38
NC_000003.11:g.70014278A>C , CM000665.1:g.70014278A>C	GRCh37
NC_000003.10:g.70096968A>C	NCBI36
NG_011631.1:g.230646A>C , LRG_776:g.230646A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1394A>C	ENSP00000324443.5:p.Asp465Ala
ENST00000687384.1:c.1391A>C	ENSP00000510225.1:p.Asp464Ala
ENST00000689390.1:n.1616A>C
ENST00000693031.1:c.1367A>C	ENSP00000509845.1:p.Asp456Ala
ENST00000693549.1:c.*205A>C	ENSP00000509358.1:n.*205A>C
ENST00000314589.10:c.1394A>C	ENSP00000324443.5:p.Asp465Ala
ENST00000352241.9:c.1460A>C MANE Select	ENSP00000295600.8:p.Asp487Ala
ENST00000394351.9:c.1139A>C MANE Plus Clinical	ENSP00000377880.3:p.Asp380Ala
ENST00000448226.9:c.1439A>C	ENSP00000391803.3:p.Asp480Ala
ENST00000642352.1:c.1442A>C	ENSP00000494105.1:p.Asp481Ala
ENST00000314557.10:c.1121A>C	ENSP00000324246.6:p.Asp374Ala
ENST00000314589.9:c.1394A>C	ENSP00000324443.5:p.Asp465Ala
ENST00000328528.10:c.1439A>C	ENSP00000327867.6:p.Asp480Ala
ENST00000352241.8:c.1442A>C	ENSP00000295600.7:p.Asp481Ala
ENST00000394351.7:c.1139A>C	ENSP00000377880.3:p.Asp380Ala
ENST00000448226.6:c.1460A>C	ENSP00000391803.2:p.Asp487Ala
ENST00000472437.5:c.1286A>C	ENSP00000418845.1:p.Asp429Ala
ENST00000478490.5:c.*786A>C	ENSP00000433487.1:n.*786A>C
ENST00000531774.1:c.953A>C	ENSP00000435909.1:p.Asp318Ala
NM_000248.3:c.1139A>C , LRG_776t1:c.1139A>C	NP_000239.1:p.Asp380Ala
NM_001184967.1:c.1286A>C	NP_001171896.1:p.Asp429Ala
NM_006722.2:c.1439A>C	NP_006713.1:p.Asp480Ala
NM_198158.2:c.1121A>C	NP_937801.1:p.Asp374Ala
NM_198159.2:c.1442A>C	NP_937802.1:p.Asp481Ala
NM_198177.2:c.1394A>C	NP_937820.1:p.Asp465Ala
NM_198178.2:c.953A>C	NP_937821.2:p.Asp318Ala
XM_005264754.1:c.1460A>C	XP_005264811.1:p.Asp487Ala
XM_005264755.2:c.1412A>C	XP_005264812.1:p.Asp471Ala
XM_006713164.2:c.1304A>C	XP_006713227.1:p.Asp435Ala
XM_011533722.1:c.1457A>C	XP_011532024.1:p.Asp486Ala
XM_011533723.1:c.1409A>C	XP_011532025.1:p.Asp470Ala
XM_011533724.1:c.1304A>C	XP_011532026.1:p.Asp435Ala
XM_011533725.1:c.1292A>C	XP_011532027.1:p.Asp431Ala
XM_011533726.1:c.1274A>C	XP_011532028.1:p.Asp425Ala
NM_001354604.1:c.1460A>C	NP_001341533.1:p.Asp487Ala
NM_001354605.1:c.1457A>C	NP_001341534.1:p.Asp486Ala
NM_001354606.1:c.1439A>C	NP_001341535.1:p.Asp480Ala
NM_001354607.1:c.1391A>C	NP_001341536.1:p.Asp464Ala
NM_001354608.1:c.1286A>C	NP_001341537.1:p.Asp429Ala
NM_001184967.2:c.1286A>C	NP_001171896.1:p.Asp429Ala
NM_001354604.2:c.1460A>C MANE Select	NP_001341533.1:p.Asp487Ala
NM_001354605.2:c.1457A>C	NP_001341534.1:p.Asp486Ala
NM_001354606.2:c.1439A>C	NP_001341535.1:p.Asp480Ala
NM_001354607.2:c.1391A>C	NP_001341536.1:p.Asp464Ala
NM_001354608.2:c.1286A>C	NP_001341537.1:p.Asp429Ala
NM_198158.3:c.1121A>C	NP_937801.1:p.Asp374Ala
NM_198159.3:c.1442A>C	NP_937802.1:p.Asp481Ala
NM_198177.3:c.1394A>C	NP_937820.1:p.Asp465Ala
NM_198178.3:c.953A>C	NP_937821.2:p.Asp318Ala
NM_000248.4:c.1139A>C MANE Plus Clinical	NP_000239.1:p.Asp380Ala
NM_006722.3:c.1439A>C	NP_006713.1:p.Asp480Ala