Canonical Allele Identifier: CA77003819

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69968055G>A , CM000665.2:g.69968055G>A	GRCh38
NC_000003.11:g.70017206G>A , CM000665.1:g.70017206G>A	GRCh37
NC_000003.10:g.70099896G>A	NCBI36
NG_011631.1:g.233574G>A , LRG_776:g.233574G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.*2807G>A MANE Select	NP_001341533.1:n.*2807G>A
ENST00000352241.9:c.*2807G>A MANE Select	ENSP00000295600.8:n.*2807G>A
NM_000248.4:c.*2807G>A MANE Plus Clinical	NP_000239.1:n.*2807G>A
ENST00000394351.9:c.*2807G>A MANE Plus Clinical	ENSP00000377880.3:n.*2807G>A
NM_000248.3:c.*2807G>A , LRG_776t1:c.*2807G>A	NP_000239.1:n.*2807G>A
NM_001184967.1:c.*2807G>A	NP_001171896.1:n.*2807G>A
NM_001184967.2:c.*2807G>A	NP_001171896.1:n.*2807G>A
NM_001354604.1:c.*2807G>A	NP_001341533.1:n.*2807G>A
NM_001354605.1:c.*2807G>A	NP_001341534.1:n.*2807G>A
NM_001354605.2:c.*2807G>A	NP_001341534.1:n.*2807G>A
NM_001354606.1:c.*2807G>A	NP_001341535.1:n.*2807G>A
NM_001354606.2:c.*2807G>A	NP_001341535.1:n.*2807G>A
NM_001354607.1:c.*2807G>A	NP_001341536.1:n.*2807G>A
NM_001354607.2:c.*2807G>A	NP_001341536.1:n.*2807G>A
NM_001354608.1:c.*2807G>A	NP_001341537.1:n.*2807G>A
NM_001354608.2:c.*2807G>A	NP_001341537.1:n.*2807G>A
NM_006722.2:c.*2807G>A	NP_006713.1:n.*2807G>A
NM_006722.3:c.*2807G>A	NP_006713.1:n.*2807G>A
NM_198158.2:c.*2807G>A	NP_937801.1:n.*2807G>A
NM_198158.3:c.*2807G>A	NP_937801.1:n.*2807G>A
NM_198159.2:c.*2807G>A	NP_937802.1:n.*2807G>A
NM_198159.3:c.*2807G>A	NP_937802.1:n.*2807G>A
NM_198177.2:c.*2807G>A	NP_937820.1:n.*2807G>A
NM_198177.3:c.*2807G>A	NP_937820.1:n.*2807G>A
NM_198178.2:c.*2807G>A	NP_937821.2:n.*2807G>A
NM_198178.3:c.*2807G>A	NP_937821.2:n.*2807G>A
ENST00000314589.10:c.*2807G>A	ENSP00000324443.5:n.*2807G>A
ENST00000314589.11:c.*2807G>A	ENSP00000324443.5:n.*2807G>A
ENST00000328528.10:c.*2807G>A	ENSP00000327867.6:n.*2807G>A
ENST00000352241.8:c.*2807G>A	ENSP00000295600.7:n.*2807G>A
ENST00000448226.9:c.*2807G>A	ENSP00000391803.3:n.*2807G>A
ENST00000642352.1:c.*2807G>A	ENSP00000494105.1:n.*2807G>A
XM_005264754.1:c.*2807G>A	XP_005264811.1:n.*2807G>A
XM_005264755.2:c.*2807G>A	XP_005264812.1:n.*2807G>A
XM_006713164.2:c.*2807G>A	XP_006713227.1:n.*2807G>A
XM_011533722.1:c.*2807G>A	XP_011532024.1:n.*2807G>A
XM_011533723.1:c.*2807G>A	XP_011532025.1:n.*2807G>A
XM_011533724.1:c.*2807G>A	XP_011532026.1:n.*2807G>A
XM_011533725.1:c.*2807G>A	XP_011532027.1:n.*2807G>A
XM_011533726.1:c.*2807G>A	XP_011532028.1:n.*2807G>A