Canonical Allele Identifier: CA2490295

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69879359G>A , CM000665.2:g.69879359G>A	GRCh38
NC_000003.11:g.69928510G>A , CM000665.1:g.69928510G>A	GRCh37
NC_000003.10:g.70011200G>A	NCBI36
NG_011631.1:g.144878G>A , LRG_776:g.144878G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.330G>A MANE Select	NP_001341533.1:p.Thr110=
ENST00000352241.9:c.330G>A MANE Select	ENSP00000295600.8:p.Thr110=
NM_001184967.1:c.174G>A	NP_001171896.1:p.Thr58=
NM_001184967.2:c.174G>A	NP_001171896.1:p.Thr58=
NM_001354604.1:c.330G>A	NP_001341533.1:p.Thr110=
NM_001354605.1:c.327G>A	NP_001341534.1:p.Thr109=
NM_001354605.2:c.327G>A	NP_001341534.1:p.Thr109=
NM_001354606.1:c.327G>A	NP_001341535.1:p.Thr109=
NM_001354606.2:c.327G>A	NP_001341535.1:p.Thr109=
NM_001354607.1:c.279G>A	NP_001341536.1:p.Thr93=
NM_001354607.2:c.279G>A	NP_001341536.1:p.Thr93=
NM_001354608.1:c.174G>A	NP_001341537.1:p.Thr58=
NM_001354608.2:c.174G>A	NP_001341537.1:p.Thr58=
NM_006722.2:c.327G>A	NP_006713.1:p.Thr109=
NM_006722.3:c.327G>A	NP_006713.1:p.Thr109=
NM_198159.2:c.330G>A	NP_937802.1:p.Thr110=
NM_198159.3:c.330G>A	NP_937802.1:p.Thr110=
NM_198177.2:c.282G>A	NP_937820.1:p.Thr94=
NM_198177.3:c.282G>A	NP_937820.1:p.Thr94=
ENST00000314589.10:c.282G>A	ENSP00000324443.5:p.Thr94=
ENST00000314589.11:c.282G>A	ENSP00000324443.5:p.Thr94=
ENST00000314589.9:c.282G>A	ENSP00000324443.5:p.Thr94=
ENST00000328528.10:c.327G>A	ENSP00000327867.6:p.Thr109=
ENST00000352241.8:c.330G>A	ENSP00000295600.7:p.Thr110=
ENST00000429090.5:c.174G>A	ENSP00000407620.1:p.Thr58=
ENST00000433517.5:c.174G>A	ENSP00000411389.1:p.Thr58=
ENST00000448226.6:c.330G>A	ENSP00000391803.2:p.Thr110=
ENST00000448226.9:c.327G>A	ENSP00000391803.3:p.Thr109=
ENST00000451708.5:c.282G>A	ENSP00000398639.1:p.Thr94=
ENST00000457080.5:c.327G>A	ENSP00000391276.1:p.Thr109=
ENST00000472437.5:c.174G>A	ENSP00000418845.1:p.Thr58=
ENST00000642352.1:c.330G>A	ENSP00000494105.1:p.Thr110=
ENST00000687384.1:c.279G>A	ENSP00000510225.1:p.Thr93=
ENST00000689390.1:n.504G>A
ENST00000693031.1:c.330G>A	ENSP00000509845.1:p.Thr110=
ENST00000693549.1:c.282G>A	ENSP00000509358.1:p.Thr94=
XM_005264754.1:c.330G>A	XP_005264811.1:p.Thr110=
XM_005264755.2:c.282G>A	XP_005264812.1:p.Thr94=
XM_006713164.2:c.174G>A	XP_006713227.1:p.Thr58=
XM_011533722.1:c.327G>A	XP_011532024.1:p.Thr109=
XM_011533723.1:c.279G>A	XP_011532025.1:p.Thr93=
XM_011533724.1:c.174G>A	XP_011532026.1:p.Thr58=
XM_011533725.1:c.330G>A	XP_011532027.1:p.Thr110=
XM_011533726.1:c.330G>A	XP_011532028.1:p.Thr110=