Canonical Allele Identifier: CA1373443524

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951844G= , CM000665.2:g.69951844G=	GRCh38
NC_000003.11:g.70000995G= , CM000665.1:g.70000995G=	GRCh37
NC_000003.10:g.70083685G=	NCBI36
NG_011631.1:g.217363G= , LRG_776:g.217363G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.847G=	ENSP00000324443.5:p.Ala283=
ENST00000687384.1:c.844G=	ENSP00000510225.1:p.Ala282=
ENST00000689390.1:n.1069G=
ENST00000693031.1:c.820G=	ENSP00000509845.1:p.Ala274=
ENST00000693549.1:c.847G=	ENSP00000509358.1:p.Ala283=
ENST00000314589.10:c.847G=	ENSP00000324443.5:p.Ala283=
ENST00000352241.9:c.913G= MANE Select	ENSP00000295600.8:p.Ala305=
ENST00000394351.9:c.592G= MANE Plus Clinical	ENSP00000377880.3:p.Ala198=
ENST00000448226.9:c.892G=	ENSP00000391803.3:p.Ala298=
ENST00000642352.1:c.895G=	ENSP00000494105.1:p.Ala299=
ENST00000314557.10:c.574G=	ENSP00000324246.6:p.Ala192=
ENST00000314589.9:c.847G=	ENSP00000324443.5:p.Ala283=
ENST00000328528.10:c.892G=	ENSP00000327867.6:p.Ala298=
ENST00000352241.8:c.895G=	ENSP00000295600.7:p.Ala299=
ENST00000394351.7:c.592G=	ENSP00000377880.3:p.Ala198=
ENST00000448226.6:c.913G=	ENSP00000391803.2:p.Ala305=
ENST00000451708.5:c.865G=	ENSP00000398639.1:p.Ala289=
ENST00000472437.5:c.739G=	ENSP00000418845.1:p.Ala247=
ENST00000478490.5:c.*239G=	ENSP00000433487.1:n.*239G=
ENST00000531774.1:c.406G=	ENSP00000435909.1:p.Ala136=
NM_000248.3:c.592G= , LRG_776t1:c.592G=	NP_000239.1:p.Ala198=
NM_001184967.1:c.739G=	NP_001171896.1:p.Ala247=
NM_006722.2:c.892G=	NP_006713.1:p.Ala298=
NM_198158.2:c.574G=	NP_937801.1:p.Ala192=
NM_198159.2:c.895G=	NP_937802.1:p.Ala299=
NM_198177.2:c.847G=	NP_937820.1:p.Ala283=
NM_198178.2:c.406G=	NP_937821.2:p.Ala136=
XM_005264754.1:c.913G=	XP_005264811.1:p.Ala305=
XM_005264755.2:c.865G=	XP_005264812.1:p.Ala289=
XM_006713164.2:c.757G=	XP_006713227.1:p.Ala253=
XM_011533722.1:c.910G=	XP_011532024.1:p.Ala304=
XM_011533723.1:c.862G=	XP_011532025.1:p.Ala288=
XM_011533724.1:c.757G=	XP_011532026.1:p.Ala253=
XM_011533725.1:c.745G=	XP_011532027.1:p.Ala249=
XM_011533726.1:c.727G=	XP_011532028.1:p.Ala243=
NM_001354604.1:c.913G=	NP_001341533.1:p.Ala305=
NM_001354605.1:c.910G=	NP_001341534.1:p.Ala304=
NM_001354606.1:c.892G=	NP_001341535.1:p.Ala298=
NM_001354607.1:c.844G=	NP_001341536.1:p.Ala282=
NM_001354608.1:c.739G=	NP_001341537.1:p.Ala247=
NM_001184967.2:c.739G=	NP_001171896.1:p.Ala247=
NM_001354604.2:c.913G= MANE Select	NP_001341533.1:p.Ala305=
NM_001354605.2:c.910G=	NP_001341534.1:p.Ala304=
NM_001354606.2:c.892G=	NP_001341535.1:p.Ala298=
NM_001354607.2:c.844G=	NP_001341536.1:p.Ala282=
NM_001354608.2:c.739G=	NP_001341537.1:p.Ala247=
NM_198158.3:c.574G=	NP_937801.1:p.Ala192=
NM_198159.3:c.895G=	NP_937802.1:p.Ala299=
NM_198177.3:c.847G=	NP_937820.1:p.Ala283=
NM_198178.3:c.406G=	NP_937821.2:p.Ala136=
NM_000248.4:c.592G= MANE Plus Clinical	NP_000239.1:p.Ala198=
NM_006722.3:c.892G=	NP_006713.1:p.Ala298=