Canonical Allele Identifier: CA353560217

Gene: MITF

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69936750T>A , CM000665.2:g.69936750T>A	GRCh38
NC_000003.11:g.69985901T>A , CM000665.1:g.69985901T>A	GRCh37
NC_000003.10:g.70068591T>A	NCBI36
NG_011631.1:g.202269T>A , LRG_776:g.202269T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.307-1072T>A	ENSP00000324443.5:n.307-1072T>A
ENST00000687384.1:c.304-1072T>A	ENSP00000510225.1:n.304-1072T>A
ENST00000689390.1:n.529-1072T>A
ENST00000693031.1:c.355-1072T>A	ENSP00000509845.1:n.355-1072T>A
ENST00000693549.1:c.307-1072T>A	ENSP00000509358.1:n.307-1072T>A
ENST00000314589.10:c.307-1072T>A	ENSP00000324443.5:n.307-1072T>A
ENST00000352241.9:c.355-1072T>A MANE Select	ENSP00000295600.8:n.355-1072T>A
ENST00000394351.9:c.28T>A MANE Plus Clinical	ENSP00000377880.3:p.Tyr10Asn
ENST00000448226.9:c.352-1072T>A	ENSP00000391803.3:n.352-1072T>A
ENST00000642352.1:c.355-1072T>A	ENSP00000494105.1:n.355-1072T>A
ENST00000314557.10:c.28T>A	ENSP00000324246.6:p.Tyr10Asn
ENST00000314589.9:c.307-1072T>A	ENSP00000324443.5:n.307-1072T>A
ENST00000328528.10:c.352-1072T>A	ENSP00000327867.6:n.352-1072T>A
ENST00000352241.8:c.355-1072T>A	ENSP00000295600.7:n.355-1072T>A
ENST00000394348.2:c.28T>A	ENSP00000481286.1:p.Tyr10Asn
ENST00000394351.7:c.28T>A	ENSP00000377880.3:p.Tyr10Asn
ENST00000429090.5:c.199-1072T>A	ENSP00000407620.1:n.199-1072T>A
ENST00000433517.5:c.199-1072T>A	ENSP00000411389.1:n.199-1072T>A
ENST00000448226.6:c.355-1072T>A	ENSP00000391803.2:n.355-1072T>A
ENST00000451708.5:c.307-1072T>A	ENSP00000398639.1:n.307-1072T>A
ENST00000472437.5:c.199-1072T>A	ENSP00000418845.1:n.199-1072T>A
ENST00000478490.5:c.28T>A	ENSP00000433487.1:p.Tyr10Asn
ENST00000531774.1:c.28T>A	ENSP00000435909.1:p.Tyr10Asn
NM_000248.3:c.28T>A , LRG_776t1:c.28T>A	NP_000239.1:p.Tyr10Asn
NM_001184967.1:c.199-1072T>A	NP_001171896.1:n.199-1072T>A
NM_001184968.1:c.28T>A	NP_001171897.1:p.Tyr10Asn
NM_006722.2:c.352-1072T>A	NP_006713.1:n.352-1072T>A
NM_198158.2:c.28T>A	NP_937801.1:p.Tyr10Asn
NM_198159.2:c.355-1072T>A	NP_937802.1:n.355-1072T>A
NM_198177.2:c.307-1072T>A	NP_937820.1:n.307-1072T>A
NM_198178.2:c.28T>A	NP_937821.2:p.Tyr10Asn
XM_005264754.1:c.355-1072T>A	XP_005264811.1:n.355-1072T>A
XM_005264755.2:c.307-1072T>A	XP_005264812.1:n.307-1072T>A
XM_006713164.2:c.199-1072T>A	XP_006713227.1:n.199-1072T>A
XM_011533722.1:c.352-1072T>A	XP_011532024.1:n.352-1072T>A
XM_011533723.1:c.304-1072T>A	XP_011532025.1:n.304-1072T>A
XM_011533724.1:c.199-1072T>A	XP_011532026.1:n.199-1072T>A
XM_011533725.1:c.355-1072T>A	XP_011532027.1:n.355-1072T>A
XM_011533726.1:c.355-1072T>A	XP_011532028.1:n.355-1072T>A
NM_001354604.1:c.355-1072T>A	NP_001341533.1:n.355-1072T>A
NM_001354605.1:c.352-1072T>A	NP_001341534.1:n.352-1072T>A
NM_001354606.1:c.352-1072T>A	NP_001341535.1:n.352-1072T>A
NM_001354607.1:c.304-1072T>A	NP_001341536.1:n.304-1072T>A
NM_001354608.1:c.199-1072T>A	NP_001341537.1:n.199-1072T>A
NM_001184967.2:c.199-1072T>A	NP_001171896.1:n.199-1072T>A
NM_001184968.2:c.28T>A	NP_001171897.1:p.Tyr10Asn
NM_001354604.2:c.355-1072T>A MANE Select	NP_001341533.1:n.355-1072T>A
NM_001354605.2:c.352-1072T>A	NP_001341534.1:n.352-1072T>A
NM_001354606.2:c.352-1072T>A	NP_001341535.1:n.352-1072T>A
NM_001354607.2:c.304-1072T>A	NP_001341536.1:n.304-1072T>A
NM_001354608.2:c.199-1072T>A	NP_001341537.1:n.199-1072T>A
NM_198158.3:c.28T>A	NP_937801.1:p.Tyr10Asn
NM_198159.3:c.355-1072T>A	NP_937802.1:n.355-1072T>A
NM_198177.3:c.307-1072T>A	NP_937820.1:n.307-1072T>A
NM_198178.3:c.28T>A	NP_937821.2:p.Tyr10Asn
NM_000248.4:c.28T>A MANE Plus Clinical	NP_000239.1:p.Tyr10Asn
NM_006722.3:c.352-1072T>A	NP_006713.1:n.352-1072T>A