Canonical Allele Identifier: CA76982257

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69774829G>A , CM000665.2:g.69774829G>A	GRCh38
NC_000003.11:g.69823980G>A , CM000665.1:g.69823980G>A	GRCh37
NC_000003.10:g.69906670G>A	NCBI36
NG_011631.1:g.40348G>A , LRG_776:g.40348G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.104+35128G>A MANE Select	NP_001341533.1:n.104+35128G>A
ENST00000352241.9:c.104+35128G>A MANE Select	ENSP00000295600.8:n.104+35128G>A
NM_001184967.1:c.-53+11137G>A	NP_001171896.1:n.-53+11137G>A
NM_001184967.2:c.-53+11137G>A	NP_001171896.1:n.-53+11137G>A
NM_001354604.1:c.104+35128G>A	NP_001341533.1:n.104+35128G>A
NM_001354605.1:c.104+35128G>A	NP_001341534.1:n.104+35128G>A
NM_001354605.2:c.104+35128G>A	NP_001341534.1:n.104+35128G>A
NM_001354606.1:c.104+35128G>A	NP_001341535.1:n.104+35128G>A
NM_001354606.2:c.104+35128G>A	NP_001341535.1:n.104+35128G>A
NM_001354607.1:c.-76-19558G>A	NP_001341536.1:n.-76-19558G>A
NM_001354607.2:c.-76-19558G>A	NP_001341536.1:n.-76-19558G>A
NM_001354608.1:c.-92+35128G>A	NP_001341537.1:n.-92+35128G>A
NM_001354608.2:c.-92+35128G>A	NP_001341537.1:n.-92+35128G>A
NM_006722.2:c.101+10887G>A	NP_006713.1:n.101+10887G>A
NM_006722.3:c.101+10887G>A	NP_006713.1:n.101+10887G>A
NM_198159.2:c.104+35128G>A	NP_937802.1:n.104+35128G>A
NM_198159.3:c.104+35128G>A	NP_937802.1:n.104+35128G>A
ENST00000328528.10:c.101+10887G>A	ENSP00000327867.6:n.101+10887G>A
ENST00000352241.8:c.104+35128G>A	ENSP00000295600.7:n.104+35128G>A
ENST00000429090.5:c.-277-3989G>A	ENSP00000407620.1:n.-277-3989G>A
ENST00000433517.5:c.-53+12040G>A	ENSP00000411389.1:n.-53+12040G>A
ENST00000448226.6:c.104+35128G>A	ENSP00000391803.2:n.104+35128G>A
ENST00000448226.9:c.101+10887G>A	ENSP00000391803.3:n.101+10887G>A
ENST00000457080.5:c.101+10887G>A	ENSP00000391276.1:n.101+10887G>A
ENST00000472437.5:c.-53+11137G>A	ENSP00000418845.1:n.-53+11137G>A
ENST00000495741.1:n.220+35128G>A
ENST00000642352.1:c.104+35128G>A	ENSP00000494105.1:n.104+35128G>A
ENST00000687384.1:c.-76-19558G>A	ENSP00000510225.1:n.-76-19558G>A
ENST00000693031.1:c.104+35128G>A	ENSP00000509845.1:n.104+35128G>A
XM_005264754.1:c.104+35128G>A	XP_005264811.1:n.104+35128G>A
XM_006713164.2:c.-92+35128G>A	XP_006713227.1:n.-92+35128G>A
XM_011533722.1:c.104+35128G>A	XP_011532024.1:n.104+35128G>A
XM_011533724.1:c.-53+11137G>A	XP_011532026.1:n.-53+11137G>A
XM_011533725.1:c.104+35128G>A	XP_011532027.1:n.104+35128G>A
XM_011533726.1:c.104+35128G>A	XP_011532028.1:n.104+35128G>A