Canonical Allele Identifier: CA434433341

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014018A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964867A>G , CM000665.2:g.69964867A>G	GRCh38
NC_000003.11:g.70014018A>G , CM000665.1:g.70014018A>G	GRCh37
NC_000003.10:g.70096708A>G	NCBI36
NG_011631.1:g.230386A>G , LRG_776:g.230386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1134A>G	ENSP00000324443.5:p.Arg378=
ENST00000687384.1:c.1131A>G	ENSP00000510225.1:p.Arg377=
ENST00000689390.1:n.1356A>G
ENST00000693031.1:c.1107A>G	ENSP00000509845.1:p.Arg369=
ENST00000693549.1:c.1114-47A>G	ENSP00000509358.1:n.1114-47A>G
ENST00000314589.10:c.1134A>G	ENSP00000324443.5:p.Arg378=
ENST00000352241.9:c.1200A>G MANE Select	ENSP00000295600.8:p.Arg400=
ENST00000394351.9:c.879A>G MANE Plus Clinical	ENSP00000377880.3:p.Arg293=
ENST00000448226.9:c.1179A>G	ENSP00000391803.3:p.Arg393=
ENST00000642352.1:c.1182A>G	ENSP00000494105.1:p.Arg394=
ENST00000314557.10:c.861A>G	ENSP00000324246.6:p.Arg287=
ENST00000314589.9:c.1134A>G	ENSP00000324443.5:p.Arg378=
ENST00000328528.10:c.1179A>G	ENSP00000327867.6:p.Arg393=
ENST00000352241.8:c.1182A>G	ENSP00000295600.7:p.Arg394=
ENST00000394351.7:c.879A>G	ENSP00000377880.3:p.Arg293=
ENST00000448226.6:c.1200A>G	ENSP00000391803.2:p.Arg400=
ENST00000472437.5:c.1026A>G	ENSP00000418845.1:p.Arg342=
ENST00000478490.5:c.*526A>G	ENSP00000433487.1:n.*526A>G
ENST00000531774.1:c.693A>G	ENSP00000435909.1:p.Arg231=
NM_000248.3:c.879A>G , LRG_776t1:c.879A>G	NP_000239.1:p.Arg293=
NM_001184967.1:c.1026A>G	NP_001171896.1:p.Arg342=
NM_006722.2:c.1179A>G	NP_006713.1:p.Arg393=
NM_198158.2:c.861A>G	NP_937801.1:p.Arg287=
NM_198159.2:c.1182A>G	NP_937802.1:p.Arg394=
NM_198177.2:c.1134A>G	NP_937820.1:p.Arg378=
NM_198178.2:c.693A>G	NP_937821.2:p.Arg231=
XM_005264754.1:c.1200A>G	XP_005264811.1:p.Arg400=
XM_005264755.2:c.1152A>G	XP_005264812.1:p.Arg384=
XM_006713164.2:c.1044A>G	XP_006713227.1:p.Arg348=
XM_011533722.1:c.1197A>G	XP_011532024.1:p.Arg399=
XM_011533723.1:c.1149A>G	XP_011532025.1:p.Arg383=
XM_011533724.1:c.1044A>G	XP_011532026.1:p.Arg348=
XM_011533725.1:c.1032A>G	XP_011532027.1:p.Arg344=
XM_011533726.1:c.1014A>G	XP_011532028.1:p.Arg338=
NM_001354604.1:c.1200A>G	NP_001341533.1:p.Arg400=
NM_001354605.1:c.1197A>G	NP_001341534.1:p.Arg399=
NM_001354606.1:c.1179A>G	NP_001341535.1:p.Arg393=
NM_001354607.1:c.1131A>G	NP_001341536.1:p.Arg377=
NM_001354608.1:c.1026A>G	NP_001341537.1:p.Arg342=
NM_001184967.2:c.1026A>G	NP_001171896.1:p.Arg342=
NM_001354604.2:c.1200A>G MANE Select	NP_001341533.1:p.Arg400=
NM_001354605.2:c.1197A>G	NP_001341534.1:p.Arg399=
NM_001354606.2:c.1179A>G	NP_001341535.1:p.Arg393=
NM_001354607.2:c.1131A>G	NP_001341536.1:p.Arg377=
NM_001354608.2:c.1026A>G	NP_001341537.1:p.Arg342=
NM_198158.3:c.861A>G	NP_937801.1:p.Arg287=
NM_198159.3:c.1182A>G	NP_937802.1:p.Arg394=
NM_198177.3:c.1134A>G	NP_937820.1:p.Arg378=
NM_198178.3:c.693A>G	NP_937821.2:p.Arg231=
NM_000248.4:c.879A>G MANE Plus Clinical	NP_000239.1:p.Arg293=
NM_006722.3:c.1179A>G	NP_006713.1:p.Arg393=