Canonical Allele Identifier: CA353561706

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70005615G>C (hg19) ; chr3:g.69956464G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956464G>C , CM000665.2:g.69956464G>C	GRCh38
NC_000003.11:g.70005615G>C , CM000665.1:g.70005615G>C	GRCh37
NC_000003.10:g.70088305G>C	NCBI36
NG_011631.1:g.221983G>C , LRG_776:g.221983G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.899G>C	ENSP00000324443.5:p.Arg300Thr
ENST00000687384.1:c.896G>C	ENSP00000510225.1:p.Arg299Thr
ENST00000689390.1:n.1121G>C
ENST00000693031.1:c.872G>C	ENSP00000509845.1:p.Arg291Thr
ENST00000693549.1:c.899G>C	ENSP00000509358.1:p.Arg300Thr
ENST00000314589.10:c.899G>C	ENSP00000324443.5:p.Arg300Thr
ENST00000352241.9:c.965G>C MANE Select	ENSP00000295600.8:p.Arg322Thr
ENST00000394351.9:c.644G>C MANE Plus Clinical	ENSP00000377880.3:p.Arg215Thr
ENST00000448226.9:c.944G>C	ENSP00000391803.3:p.Arg315Thr
ENST00000642352.1:c.947G>C	ENSP00000494105.1:p.Arg316Thr
ENST00000314557.10:c.626G>C	ENSP00000324246.6:p.Arg209Thr
ENST00000314589.9:c.899G>C	ENSP00000324443.5:p.Arg300Thr
ENST00000328528.10:c.944G>C	ENSP00000327867.6:p.Arg315Thr
ENST00000352241.8:c.947G>C	ENSP00000295600.7:p.Arg316Thr
ENST00000394351.7:c.644G>C	ENSP00000377880.3:p.Arg215Thr
ENST00000448226.6:c.965G>C	ENSP00000391803.2:p.Arg322Thr
ENST00000451708.5:c.917G>C	ENSP00000398639.1:p.Arg306Thr
ENST00000472437.5:c.791G>C	ENSP00000418845.1:p.Arg264Thr
ENST00000478490.5:c.*291G>C	ENSP00000433487.1:n.*291G>C
ENST00000531774.1:c.458G>C	ENSP00000435909.1:p.Arg153Thr
NM_000248.3:c.644G>C , LRG_776t1:c.644G>C	NP_000239.1:p.Arg215Thr
NM_001184967.1:c.791G>C	NP_001171896.1:p.Arg264Thr
NM_006722.2:c.944G>C	NP_006713.1:p.Arg315Thr
NM_198158.2:c.626G>C	NP_937801.1:p.Arg209Thr
NM_198159.2:c.947G>C	NP_937802.1:p.Arg316Thr
NM_198177.2:c.899G>C	NP_937820.1:p.Arg300Thr
NM_198178.2:c.458G>C	NP_937821.2:p.Arg153Thr
XM_005264754.1:c.965G>C	XP_005264811.1:p.Arg322Thr
XM_005264755.2:c.917G>C	XP_005264812.1:p.Arg306Thr
XM_006713164.2:c.809G>C	XP_006713227.1:p.Arg270Thr
XM_011533722.1:c.962G>C	XP_011532024.1:p.Arg321Thr
XM_011533723.1:c.914G>C	XP_011532025.1:p.Arg305Thr
XM_011533724.1:c.809G>C	XP_011532026.1:p.Arg270Thr
XM_011533725.1:c.797G>C	XP_011532027.1:p.Arg266Thr
XM_011533726.1:c.779G>C	XP_011532028.1:p.Arg260Thr
NM_001354604.1:c.965G>C	NP_001341533.1:p.Arg322Thr
NM_001354605.1:c.962G>C	NP_001341534.1:p.Arg321Thr
NM_001354606.1:c.944G>C	NP_001341535.1:p.Arg315Thr
NM_001354607.1:c.896G>C	NP_001341536.1:p.Arg299Thr
NM_001354608.1:c.791G>C	NP_001341537.1:p.Arg264Thr
NM_001184967.2:c.791G>C	NP_001171896.1:p.Arg264Thr
NM_001354604.2:c.965G>C MANE Select	NP_001341533.1:p.Arg322Thr
NM_001354605.2:c.962G>C	NP_001341534.1:p.Arg321Thr
NM_001354606.2:c.944G>C	NP_001341535.1:p.Arg315Thr
NM_001354607.2:c.896G>C	NP_001341536.1:p.Arg299Thr
NM_001354608.2:c.791G>C	NP_001341537.1:p.Arg264Thr
NM_198158.3:c.626G>C	NP_937801.1:p.Arg209Thr
NM_198159.3:c.947G>C	NP_937802.1:p.Arg316Thr
NM_198177.3:c.899G>C	NP_937820.1:p.Arg300Thr
NM_198178.3:c.458G>C	NP_937821.2:p.Arg153Thr
NM_000248.4:c.644G>C MANE Plus Clinical	NP_000239.1:p.Arg215Thr
NM_006722.3:c.944G>C	NP_006713.1:p.Arg315Thr