Canonical Allele Identifier: CA353561596

Gene: MITF

Linked Data

• gnomAD v4: 3-69951854-A-G
• MyVariant Identifiers: chr3:g.70001005A>G (hg19) ; chr3:g.69951854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951854A>G , CM000665.2:g.69951854A>G	GRCh38
NC_000003.11:g.70001005A>G , CM000665.1:g.70001005A>G	GRCh37
NC_000003.10:g.70083695A>G	NCBI36
NG_011631.1:g.217373A>G , LRG_776:g.217373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.857A>G	ENSP00000324443.5:p.Lys286Arg
ENST00000687384.1:c.854A>G	ENSP00000510225.1:p.Lys285Arg
ENST00000689390.1:n.1079A>G
ENST00000693031.1:c.830A>G	ENSP00000509845.1:p.Lys277Arg
ENST00000693549.1:c.857A>G	ENSP00000509358.1:p.Lys286Arg
ENST00000314589.10:c.857A>G	ENSP00000324443.5:p.Lys286Arg
ENST00000352241.9:c.923A>G MANE Select	ENSP00000295600.8:p.Lys308Arg
ENST00000394351.9:c.602A>G MANE Plus Clinical	ENSP00000377880.3:p.Lys201Arg
ENST00000448226.9:c.902A>G	ENSP00000391803.3:p.Lys301Arg
ENST00000642352.1:c.905A>G	ENSP00000494105.1:p.Lys302Arg
ENST00000314557.10:c.584A>G	ENSP00000324246.6:p.Lys195Arg
ENST00000314589.9:c.857A>G	ENSP00000324443.5:p.Lys286Arg
ENST00000328528.10:c.902A>G	ENSP00000327867.6:p.Lys301Arg
ENST00000352241.8:c.905A>G	ENSP00000295600.7:p.Lys302Arg
ENST00000394351.7:c.602A>G	ENSP00000377880.3:p.Lys201Arg
ENST00000448226.6:c.923A>G	ENSP00000391803.2:p.Lys308Arg
ENST00000451708.5:c.875A>G	ENSP00000398639.1:p.Lys292Arg
ENST00000472437.5:c.749A>G	ENSP00000418845.1:p.Lys250Arg
ENST00000478490.5:c.*249A>G	ENSP00000433487.1:n.*249A>G
ENST00000531774.1:c.416A>G	ENSP00000435909.1:p.Lys139Arg
NM_000248.3:c.602A>G , LRG_776t1:c.602A>G	NP_000239.1:p.Lys201Arg
NM_001184967.1:c.749A>G	NP_001171896.1:p.Lys250Arg
NM_006722.2:c.902A>G	NP_006713.1:p.Lys301Arg
NM_198158.2:c.584A>G	NP_937801.1:p.Lys195Arg
NM_198159.2:c.905A>G	NP_937802.1:p.Lys302Arg
NM_198177.2:c.857A>G	NP_937820.1:p.Lys286Arg
NM_198178.2:c.416A>G	NP_937821.2:p.Lys139Arg
XM_005264754.1:c.923A>G	XP_005264811.1:p.Lys308Arg
XM_005264755.2:c.875A>G	XP_005264812.1:p.Lys292Arg
XM_006713164.2:c.767A>G	XP_006713227.1:p.Lys256Arg
XM_011533722.1:c.920A>G	XP_011532024.1:p.Lys307Arg
XM_011533723.1:c.872A>G	XP_011532025.1:p.Lys291Arg
XM_011533724.1:c.767A>G	XP_011532026.1:p.Lys256Arg
XM_011533725.1:c.755A>G	XP_011532027.1:p.Lys252Arg
XM_011533726.1:c.737A>G	XP_011532028.1:p.Lys246Arg
NM_001354604.1:c.923A>G	NP_001341533.1:p.Lys308Arg
NM_001354605.1:c.920A>G	NP_001341534.1:p.Lys307Arg
NM_001354606.1:c.902A>G	NP_001341535.1:p.Lys301Arg
NM_001354607.1:c.854A>G	NP_001341536.1:p.Lys285Arg
NM_001354608.1:c.749A>G	NP_001341537.1:p.Lys250Arg
NM_001184967.2:c.749A>G	NP_001171896.1:p.Lys250Arg
NM_001354604.2:c.923A>G MANE Select	NP_001341533.1:p.Lys308Arg
NM_001354605.2:c.920A>G	NP_001341534.1:p.Lys307Arg
NM_001354606.2:c.902A>G	NP_001341535.1:p.Lys301Arg
NM_001354607.2:c.854A>G	NP_001341536.1:p.Lys285Arg
NM_001354608.2:c.749A>G	NP_001341537.1:p.Lys250Arg
NM_198158.3:c.584A>G	NP_937801.1:p.Lys195Arg
NM_198159.3:c.905A>G	NP_937802.1:p.Lys302Arg
NM_198177.3:c.857A>G	NP_937820.1:p.Lys286Arg
NM_198178.3:c.416A>G	NP_937821.2:p.Lys139Arg
NM_000248.4:c.602A>G MANE Plus Clinical	NP_000239.1:p.Lys201Arg
NM_006722.3:c.902A>G	NP_006713.1:p.Lys301Arg