Canonical Allele Identifier: CA2490298

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69879374A>G , CM000665.2:g.69879374A>G	GRCh38
NC_000003.11:g.69928525A>G , CM000665.1:g.69928525A>G	GRCh37
NC_000003.10:g.70011215A>G	NCBI36
NG_011631.1:g.144893A>G , LRG_776:g.144893A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.345A>G MANE Select	NP_001341533.1:p.Glu115=
ENST00000352241.9:c.345A>G MANE Select	ENSP00000295600.8:p.Glu115=
NM_001184967.1:c.189A>G	NP_001171896.1:p.Glu63=
NM_001184967.2:c.189A>G	NP_001171896.1:p.Glu63=
NM_001354604.1:c.345A>G	NP_001341533.1:p.Glu115=
NM_001354605.1:c.342A>G	NP_001341534.1:p.Glu114=
NM_001354605.2:c.342A>G	NP_001341534.1:p.Glu114=
NM_001354606.1:c.342A>G	NP_001341535.1:p.Glu114=
NM_001354606.2:c.342A>G	NP_001341535.1:p.Glu114=
NM_001354607.1:c.294A>G	NP_001341536.1:p.Glu98=
NM_001354607.2:c.294A>G	NP_001341536.1:p.Glu98=
NM_001354608.1:c.189A>G	NP_001341537.1:p.Glu63=
NM_001354608.2:c.189A>G	NP_001341537.1:p.Glu63=
NM_006722.2:c.342A>G	NP_006713.1:p.Glu114=
NM_006722.3:c.342A>G	NP_006713.1:p.Glu114=
NM_198159.2:c.345A>G	NP_937802.1:p.Glu115=
NM_198159.3:c.345A>G	NP_937802.1:p.Glu115=
NM_198177.2:c.297A>G	NP_937820.1:p.Glu99=
NM_198177.3:c.297A>G	NP_937820.1:p.Glu99=
ENST00000314589.10:c.297A>G	ENSP00000324443.5:p.Glu99=
ENST00000314589.11:c.297A>G	ENSP00000324443.5:p.Glu99=
ENST00000314589.9:c.297A>G	ENSP00000324443.5:p.Glu99=
ENST00000328528.10:c.342A>G	ENSP00000327867.6:p.Glu114=
ENST00000352241.8:c.345A>G	ENSP00000295600.7:p.Glu115=
ENST00000429090.5:c.189A>G	ENSP00000407620.1:p.Glu63=
ENST00000433517.5:c.189A>G	ENSP00000411389.1:p.Glu63=
ENST00000448226.6:c.345A>G	ENSP00000391803.2:p.Glu115=
ENST00000448226.9:c.342A>G	ENSP00000391803.3:p.Glu114=
ENST00000451708.5:c.297A>G	ENSP00000398639.1:p.Glu99=
ENST00000457080.5:c.342A>G	ENSP00000391276.1:p.Glu114=
ENST00000472437.5:c.189A>G	ENSP00000418845.1:p.Glu63=
ENST00000642352.1:c.345A>G	ENSP00000494105.1:p.Glu115=
ENST00000687384.1:c.294A>G	ENSP00000510225.1:p.Glu98=
ENST00000689390.1:n.519A>G
ENST00000693031.1:c.345A>G	ENSP00000509845.1:p.Glu115=
ENST00000693549.1:c.297A>G	ENSP00000509358.1:p.Glu99=
XM_005264754.1:c.345A>G	XP_005264811.1:p.Glu115=
XM_005264755.2:c.297A>G	XP_005264812.1:p.Glu99=
XM_006713164.2:c.189A>G	XP_006713227.1:p.Glu63=
XM_011533722.1:c.342A>G	XP_011532024.1:p.Glu114=
XM_011533723.1:c.294A>G	XP_011532025.1:p.Glu98=
XM_011533724.1:c.189A>G	XP_011532026.1:p.Glu63=
XM_011533725.1:c.345A>G	XP_011532027.1:p.Glu115=
XM_011533726.1:c.345A>G	XP_011532028.1:p.Glu115=