Canonical Allele Identifier: CA353561572

Gene: MITF

Linked Data

• gnomAD v4: 3-69951842-G-C
• MyVariant Identifiers: chr3:g.70000993G>C (hg19) ; chr3:g.69951842G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951842G>C , CM000665.2:g.69951842G>C	GRCh38
NC_000003.11:g.70000993G>C , CM000665.1:g.70000993G>C	GRCh37
NC_000003.10:g.70083683G>C	NCBI36
NG_011631.1:g.217361G>C , LRG_776:g.217361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.845G>C	ENSP00000324443.5:p.Arg282Thr
ENST00000687384.1:c.842G>C	ENSP00000510225.1:p.Arg281Thr
ENST00000689390.1:n.1067G>C
ENST00000693031.1:c.818G>C	ENSP00000509845.1:p.Arg273Thr
ENST00000693549.1:c.845G>C	ENSP00000509358.1:p.Arg282Thr
ENST00000314589.10:c.845G>C	ENSP00000324443.5:p.Arg282Thr
ENST00000352241.9:c.911G>C MANE Select	ENSP00000295600.8:p.Arg304Thr
ENST00000394351.9:c.590G>C MANE Plus Clinical	ENSP00000377880.3:p.Arg197Thr
ENST00000448226.9:c.890G>C	ENSP00000391803.3:p.Arg297Thr
ENST00000642352.1:c.893G>C	ENSP00000494105.1:p.Arg298Thr
ENST00000314557.10:c.572G>C	ENSP00000324246.6:p.Arg191Thr
ENST00000314589.9:c.845G>C	ENSP00000324443.5:p.Arg282Thr
ENST00000328528.10:c.890G>C	ENSP00000327867.6:p.Arg297Thr
ENST00000352241.8:c.893G>C	ENSP00000295600.7:p.Arg298Thr
ENST00000394351.7:c.590G>C	ENSP00000377880.3:p.Arg197Thr
ENST00000448226.6:c.911G>C	ENSP00000391803.2:p.Arg304Thr
ENST00000451708.5:c.863G>C	ENSP00000398639.1:p.Arg288Thr
ENST00000472437.5:c.737G>C	ENSP00000418845.1:p.Arg246Thr
ENST00000478490.5:c.*237G>C	ENSP00000433487.1:n.*237G>C
ENST00000531774.1:c.404G>C	ENSP00000435909.1:p.Arg135Thr
NM_000248.3:c.590G>C , LRG_776t1:c.590G>C	NP_000239.1:p.Arg197Thr
NM_001184967.1:c.737G>C	NP_001171896.1:p.Arg246Thr
NM_006722.2:c.890G>C	NP_006713.1:p.Arg297Thr
NM_198158.2:c.572G>C	NP_937801.1:p.Arg191Thr
NM_198159.2:c.893G>C	NP_937802.1:p.Arg298Thr
NM_198177.2:c.845G>C	NP_937820.1:p.Arg282Thr
NM_198178.2:c.404G>C	NP_937821.2:p.Arg135Thr
XM_005264754.1:c.911G>C	XP_005264811.1:p.Arg304Thr
XM_005264755.2:c.863G>C	XP_005264812.1:p.Arg288Thr
XM_006713164.2:c.755G>C	XP_006713227.1:p.Arg252Thr
XM_011533722.1:c.908G>C	XP_011532024.1:p.Arg303Thr
XM_011533723.1:c.860G>C	XP_011532025.1:p.Arg287Thr
XM_011533724.1:c.755G>C	XP_011532026.1:p.Arg252Thr
XM_011533725.1:c.743G>C	XP_011532027.1:p.Arg248Thr
XM_011533726.1:c.725G>C	XP_011532028.1:p.Arg242Thr
NM_001354604.1:c.911G>C	NP_001341533.1:p.Arg304Thr
NM_001354605.1:c.908G>C	NP_001341534.1:p.Arg303Thr
NM_001354606.1:c.890G>C	NP_001341535.1:p.Arg297Thr
NM_001354607.1:c.842G>C	NP_001341536.1:p.Arg281Thr
NM_001354608.1:c.737G>C	NP_001341537.1:p.Arg246Thr
NM_001184967.2:c.737G>C	NP_001171896.1:p.Arg246Thr
NM_001354604.2:c.911G>C MANE Select	NP_001341533.1:p.Arg304Thr
NM_001354605.2:c.908G>C	NP_001341534.1:p.Arg303Thr
NM_001354606.2:c.890G>C	NP_001341535.1:p.Arg297Thr
NM_001354607.2:c.842G>C	NP_001341536.1:p.Arg281Thr
NM_001354608.2:c.737G>C	NP_001341537.1:p.Arg246Thr
NM_198158.3:c.572G>C	NP_937801.1:p.Arg191Thr
NM_198159.3:c.893G>C	NP_937802.1:p.Arg298Thr
NM_198177.3:c.845G>C	NP_937820.1:p.Arg282Thr
NM_198178.3:c.404G>C	NP_937821.2:p.Arg135Thr
NM_000248.4:c.590G>C MANE Plus Clinical	NP_000239.1:p.Arg197Thr
NM_006722.3:c.890G>C	NP_006713.1:p.Arg297Thr