Canonical Allele Identifier: CA353561586

Gene: MITF

Linked Data

• dbSNP Id: rs2066264548
• MyVariant Identifiers: chr3:g.70001001G>A (hg19) ; chr3:g.69951850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951850G>A , CM000665.2:g.69951850G>A	GRCh38
NC_000003.11:g.70001001G>A , CM000665.1:g.70001001G>A	GRCh37
NC_000003.10:g.70083691G>A	NCBI36
NG_011631.1:g.217369G>A , LRG_776:g.217369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.853G>A	ENSP00000324443.5:p.Ala285Thr
ENST00000687384.1:c.850G>A	ENSP00000510225.1:p.Ala284Thr
ENST00000689390.1:n.1075G>A
ENST00000693031.1:c.826G>A	ENSP00000509845.1:p.Ala276Thr
ENST00000693549.1:c.853G>A	ENSP00000509358.1:p.Ala285Thr
ENST00000314589.10:c.853G>A	ENSP00000324443.5:p.Ala285Thr
ENST00000352241.9:c.919G>A MANE Select	ENSP00000295600.8:p.Ala307Thr
ENST00000394351.9:c.598G>A MANE Plus Clinical	ENSP00000377880.3:p.Ala200Thr
ENST00000448226.9:c.898G>A	ENSP00000391803.3:p.Ala300Thr
ENST00000642352.1:c.901G>A	ENSP00000494105.1:p.Ala301Thr
ENST00000314557.10:c.580G>A	ENSP00000324246.6:p.Ala194Thr
ENST00000314589.9:c.853G>A	ENSP00000324443.5:p.Ala285Thr
ENST00000328528.10:c.898G>A	ENSP00000327867.6:p.Ala300Thr
ENST00000352241.8:c.901G>A	ENSP00000295600.7:p.Ala301Thr
ENST00000394351.7:c.598G>A	ENSP00000377880.3:p.Ala200Thr
ENST00000448226.6:c.919G>A	ENSP00000391803.2:p.Ala307Thr
ENST00000451708.5:c.871G>A	ENSP00000398639.1:p.Ala291Thr
ENST00000472437.5:c.745G>A	ENSP00000418845.1:p.Ala249Thr
ENST00000478490.5:c.*245G>A	ENSP00000433487.1:n.*245G>A
ENST00000531774.1:c.412G>A	ENSP00000435909.1:p.Ala138Thr
NM_000248.3:c.598G>A , LRG_776t1:c.598G>A	NP_000239.1:p.Ala200Thr
NM_001184967.1:c.745G>A	NP_001171896.1:p.Ala249Thr
NM_006722.2:c.898G>A	NP_006713.1:p.Ala300Thr
NM_198158.2:c.580G>A	NP_937801.1:p.Ala194Thr
NM_198159.2:c.901G>A	NP_937802.1:p.Ala301Thr
NM_198177.2:c.853G>A	NP_937820.1:p.Ala285Thr
NM_198178.2:c.412G>A	NP_937821.2:p.Ala138Thr
XM_005264754.1:c.919G>A	XP_005264811.1:p.Ala307Thr
XM_005264755.2:c.871G>A	XP_005264812.1:p.Ala291Thr
XM_006713164.2:c.763G>A	XP_006713227.1:p.Ala255Thr
XM_011533722.1:c.916G>A	XP_011532024.1:p.Ala306Thr
XM_011533723.1:c.868G>A	XP_011532025.1:p.Ala290Thr
XM_011533724.1:c.763G>A	XP_011532026.1:p.Ala255Thr
XM_011533725.1:c.751G>A	XP_011532027.1:p.Ala251Thr
XM_011533726.1:c.733G>A	XP_011532028.1:p.Ala245Thr
NM_001354604.1:c.919G>A	NP_001341533.1:p.Ala307Thr
NM_001354605.1:c.916G>A	NP_001341534.1:p.Ala306Thr
NM_001354606.1:c.898G>A	NP_001341535.1:p.Ala300Thr
NM_001354607.1:c.850G>A	NP_001341536.1:p.Ala284Thr
NM_001354608.1:c.745G>A	NP_001341537.1:p.Ala249Thr
NM_001184967.2:c.745G>A	NP_001171896.1:p.Ala249Thr
NM_001354604.2:c.919G>A MANE Select	NP_001341533.1:p.Ala307Thr
NM_001354605.2:c.916G>A	NP_001341534.1:p.Ala306Thr
NM_001354606.2:c.898G>A	NP_001341535.1:p.Ala300Thr
NM_001354607.2:c.850G>A	NP_001341536.1:p.Ala284Thr
NM_001354608.2:c.745G>A	NP_001341537.1:p.Ala249Thr
NM_198158.3:c.580G>A	NP_937801.1:p.Ala194Thr
NM_198159.3:c.901G>A	NP_937802.1:p.Ala301Thr
NM_198177.3:c.853G>A	NP_937820.1:p.Ala285Thr
NM_198178.3:c.412G>A	NP_937821.2:p.Ala138Thr
NM_000248.4:c.598G>A MANE Plus Clinical	NP_000239.1:p.Ala200Thr
NM_006722.3:c.898G>A	NP_006713.1:p.Ala300Thr