Canonical Allele Identifier: CA76978458

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69739769C>G , CM000665.2:g.69739769C>G	GRCh38
NC_000003.11:g.69788920C>G , CM000665.1:g.69788920C>G	GRCh37
NC_000003.10:g.69871610C>G	NCBI36
NG_011631.1:g.5288C>G , LRG_776:g.5288C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687384.1:c.-77+68C>G	ENSP00000510225.1:n.-77+68C>G
ENST00000693031.1:c.104+68C>G	ENSP00000509845.1:n.104+68C>G
ENST00000352241.9:c.104+68C>G MANE Select	ENSP00000295600.8:n.104+68C>G
ENST00000642352.1:c.104+68C>G	ENSP00000494105.1:n.104+68C>G
ENST00000352241.8:c.104+68C>G	ENSP00000295600.7:n.104+68C>G
ENST00000448226.6:c.104+68C>G	ENSP00000391803.2:n.104+68C>G
ENST00000461511.1:n.228+68C>G
ENST00000495741.1:n.220+68C>G
NM_198159.2:c.104+68C>G	NP_937802.1:n.104+68C>G
XM_005264754.1:c.104+68C>G	XP_005264811.1:n.104+68C>G
XM_006713164.2:c.-92+68C>G	XP_006713227.1:n.-92+68C>G
XM_011533722.1:c.104+68C>G	XP_011532024.1:n.104+68C>G
XM_011533725.1:c.104+68C>G	XP_011532027.1:n.104+68C>G
XM_011533726.1:c.104+68C>G	XP_011532028.1:n.104+68C>G
NM_001354604.1:c.104+68C>G	NP_001341533.1:n.104+68C>G
NM_001354605.1:c.104+68C>G	NP_001341534.1:n.104+68C>G
NM_001354606.1:c.104+68C>G	NP_001341535.1:n.104+68C>G
NM_001354607.1:c.-77+68C>G	NP_001341536.1:n.-77+68C>G
NM_001354608.1:c.-92+68C>G	NP_001341537.1:n.-92+68C>G
NM_001354604.2:c.104+68C>G MANE Select	NP_001341533.1:n.104+68C>G
NM_001354605.2:c.104+68C>G	NP_001341534.1:n.104+68C>G
NM_001354606.2:c.104+68C>G	NP_001341535.1:n.104+68C>G
NM_001354607.2:c.-77+68C>G	NP_001341536.1:n.-77+68C>G
NM_001354608.2:c.-92+68C>G	NP_001341537.1:n.-92+68C>G
NM_198159.3:c.104+68C>G	NP_937802.1:n.104+68C>G