Canonical Allele Identifier: CA353559589

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014132T>A (hg19) ; chr3:g.69964981T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964981T>A , CM000665.2:g.69964981T>A	GRCh38
NC_000003.11:g.70014132T>A , CM000665.1:g.70014132T>A	GRCh37
NC_000003.10:g.70096822T>A	NCBI36
NG_011631.1:g.230500T>A , LRG_776:g.230500T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1248T>A	ENSP00000324443.5:p.His416Gln
ENST00000687384.1:c.1245T>A	ENSP00000510225.1:p.His415Gln
ENST00000689390.1:n.1470T>A
ENST00000693031.1:c.1221T>A	ENSP00000509845.1:p.His407Gln
ENST00000693549.1:c.*59T>A	ENSP00000509358.1:n.*59T>A
ENST00000314589.10:c.1248T>A	ENSP00000324443.5:p.His416Gln
ENST00000352241.9:c.1314T>A MANE Select	ENSP00000295600.8:p.His438Gln
ENST00000394351.9:c.993T>A MANE Plus Clinical	ENSP00000377880.3:p.His331Gln
ENST00000448226.9:c.1293T>A	ENSP00000391803.3:p.His431Gln
ENST00000642352.1:c.1296T>A	ENSP00000494105.1:p.His432Gln
ENST00000314557.10:c.975T>A	ENSP00000324246.6:p.His325Gln
ENST00000314589.9:c.1248T>A	ENSP00000324443.5:p.His416Gln
ENST00000328528.10:c.1293T>A	ENSP00000327867.6:p.His431Gln
ENST00000352241.8:c.1296T>A	ENSP00000295600.7:p.His432Gln
ENST00000394351.7:c.993T>A	ENSP00000377880.3:p.His331Gln
ENST00000448226.6:c.1314T>A	ENSP00000391803.2:p.His438Gln
ENST00000472437.5:c.1140T>A	ENSP00000418845.1:p.His380Gln
ENST00000478490.5:c.*640T>A	ENSP00000433487.1:n.*640T>A
ENST00000531774.1:c.807T>A	ENSP00000435909.1:p.His269Gln
NM_000248.3:c.993T>A , LRG_776t1:c.993T>A	NP_000239.1:p.His331Gln
NM_001184967.1:c.1140T>A	NP_001171896.1:p.His380Gln
NM_006722.2:c.1293T>A	NP_006713.1:p.His431Gln
NM_198158.2:c.975T>A	NP_937801.1:p.His325Gln
NM_198159.2:c.1296T>A	NP_937802.1:p.His432Gln
NM_198177.2:c.1248T>A	NP_937820.1:p.His416Gln
NM_198178.2:c.807T>A	NP_937821.2:p.His269Gln
XM_005264754.1:c.1314T>A	XP_005264811.1:p.His438Gln
XM_005264755.2:c.1266T>A	XP_005264812.1:p.His422Gln
XM_006713164.2:c.1158T>A	XP_006713227.1:p.His386Gln
XM_011533722.1:c.1311T>A	XP_011532024.1:p.His437Gln
XM_011533723.1:c.1263T>A	XP_011532025.1:p.His421Gln
XM_011533724.1:c.1158T>A	XP_011532026.1:p.His386Gln
XM_011533725.1:c.1146T>A	XP_011532027.1:p.His382Gln
XM_011533726.1:c.1128T>A	XP_011532028.1:p.His376Gln
NM_001354604.1:c.1314T>A	NP_001341533.1:p.His438Gln
NM_001354605.1:c.1311T>A	NP_001341534.1:p.His437Gln
NM_001354606.1:c.1293T>A	NP_001341535.1:p.His431Gln
NM_001354607.1:c.1245T>A	NP_001341536.1:p.His415Gln
NM_001354608.1:c.1140T>A	NP_001341537.1:p.His380Gln
NM_001184967.2:c.1140T>A	NP_001171896.1:p.His380Gln
NM_001354604.2:c.1314T>A MANE Select	NP_001341533.1:p.His438Gln
NM_001354605.2:c.1311T>A	NP_001341534.1:p.His437Gln
NM_001354606.2:c.1293T>A	NP_001341535.1:p.His431Gln
NM_001354607.2:c.1245T>A	NP_001341536.1:p.His415Gln
NM_001354608.2:c.1140T>A	NP_001341537.1:p.His380Gln
NM_198158.3:c.975T>A	NP_937801.1:p.His325Gln
NM_198159.3:c.1296T>A	NP_937802.1:p.His432Gln
NM_198177.3:c.1248T>A	NP_937820.1:p.His416Gln
NM_198178.3:c.807T>A	NP_937821.2:p.His269Gln
NM_000248.4:c.993T>A MANE Plus Clinical	NP_000239.1:p.His331Gln
NM_006722.3:c.1293T>A	NP_006713.1:p.His431Gln