Canonical Allele Identifier: CA2490437

Gene: MITF

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69941243A>G , CM000665.2:g.69941243A>G	GRCh38
NC_000003.11:g.69990394A>G , CM000665.1:g.69990394A>G	GRCh37
NC_000003.10:g.70073084A>G	NCBI36
NG_011631.1:g.206762A>G , LRG_776:g.206762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.626A>G	ENSP00000324443.5:p.Asp209Gly
ENST00000687384.1:c.623A>G	ENSP00000510225.1:p.Asp208Gly
ENST00000689390.1:n.848A>G
ENST00000693031.1:c.599A>G	ENSP00000509845.1:p.Asp200Gly
ENST00000693549.1:c.626A>G	ENSP00000509358.1:p.Asp209Gly
ENST00000314589.10:c.626A>G	ENSP00000324443.5:p.Asp209Gly
ENST00000352241.9:c.674A>G MANE Select	ENSP00000295600.8:p.Asp225Gly
ENST00000394351.9:c.353A>G MANE Plus Clinical	ENSP00000377880.3:p.Asp118Gly
ENST00000448226.9:c.671A>G	ENSP00000391803.3:p.Asp224Gly
ENST00000642352.1:c.674A>G	ENSP00000494105.1:p.Asp225Gly
ENST00000314557.10:c.353A>G	ENSP00000324246.6:p.Asp118Gly
ENST00000314589.9:c.626A>G	ENSP00000324443.5:p.Asp209Gly
ENST00000328528.10:c.671A>G	ENSP00000327867.6:p.Asp224Gly
ENST00000352241.8:c.674A>G	ENSP00000295600.7:p.Asp225Gly
ENST00000394351.7:c.353A>G	ENSP00000377880.3:p.Asp118Gly
ENST00000433517.5:c.350A>G	ENSP00000411389.1:p.Asp117Gly
ENST00000448226.6:c.674A>G	ENSP00000391803.2:p.Asp225Gly
ENST00000451708.5:c.626A>G	ENSP00000398639.1:p.Asp209Gly
ENST00000461014.1:n.664A>G
ENST00000472437.5:c.518A>G	ENSP00000418845.1:p.Asp173Gly
ENST00000478490.5:c.318A>G	ENSP00000433487.1:p.Ter106Trp
ENST00000531774.1:c.185A>G	ENSP00000435909.1:p.Asp62Gly
NM_000248.3:c.353A>G , LRG_776t1:c.353A>G	NP_000239.1:p.Asp118Gly
NM_001184967.1:c.518A>G	NP_001171896.1:p.Asp173Gly
NM_006722.2:c.671A>G	NP_006713.1:p.Asp224Gly
NM_198158.2:c.353A>G	NP_937801.1:p.Asp118Gly
NM_198159.2:c.674A>G	NP_937802.1:p.Asp225Gly
NM_198177.2:c.626A>G	NP_937820.1:p.Asp209Gly
NM_198178.2:c.185A>G	NP_937821.2:p.Asp62Gly
XM_005264754.1:c.674A>G	XP_005264811.1:p.Asp225Gly
XM_005264755.2:c.626A>G	XP_005264812.1:p.Asp209Gly
XM_006713164.2:c.518A>G	XP_006713227.1:p.Asp173Gly
XM_011533722.1:c.671A>G	XP_011532024.1:p.Asp224Gly
XM_011533723.1:c.623A>G	XP_011532025.1:p.Asp208Gly
XM_011533724.1:c.518A>G	XP_011532026.1:p.Asp173Gly
XM_011533725.1:c.506A>G	XP_011532027.1:p.Asp169Gly
XM_011533726.1:c.506A>G	XP_011532028.1:p.Asp169Gly
NM_001354604.1:c.674A>G	NP_001341533.1:p.Asp225Gly
NM_001354605.1:c.671A>G	NP_001341534.1:p.Asp224Gly
NM_001354606.1:c.671A>G	NP_001341535.1:p.Asp224Gly
NM_001354607.1:c.623A>G	NP_001341536.1:p.Asp208Gly
NM_001354608.1:c.518A>G	NP_001341537.1:p.Asp173Gly
NM_001184967.2:c.518A>G	NP_001171896.1:p.Asp173Gly
NM_001354604.2:c.674A>G MANE Select	NP_001341533.1:p.Asp225Gly
NM_001354605.2:c.671A>G	NP_001341534.1:p.Asp224Gly
NM_001354606.2:c.671A>G	NP_001341535.1:p.Asp224Gly
NM_001354607.2:c.623A>G	NP_001341536.1:p.Asp208Gly
NM_001354608.2:c.518A>G	NP_001341537.1:p.Asp173Gly
NM_198158.3:c.353A>G	NP_937801.1:p.Asp118Gly
NM_198159.3:c.674A>G	NP_937802.1:p.Asp225Gly
NM_198177.3:c.626A>G	NP_937820.1:p.Asp209Gly
NM_198178.3:c.185A>G	NP_937821.2:p.Asp62Gly
NM_000248.4:c.353A>G MANE Plus Clinical	NP_000239.1:p.Asp118Gly
NM_006722.3:c.671A>G	NP_006713.1:p.Asp224Gly