Canonical Allele Identifier: CA1373369097
Community Standard Title: NM_001354604.2(MITF):c.104+35241A=
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69774942A= , CM000665.2:g.69774942A= GRCh38
NC_000003.11:g.69824093A= , CM000665.1:g.69824093A= GRCh37
NC_000003.10:g.69906783A= NCBI36
NG_011631.1:g.40461A= , LRG_776:g.40461A=

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.104+35241A= MANE Select NP_001341533.1:n.104+35241A=
ENST00000352241.9:c.104+35241A= MANE Select ENSP00000295600.8:n.104+35241A=
NM_001184967.1:c.-53+11250A= NP_001171896.1:n.-53+11250A=
NM_001184967.2:c.-53+11250A= NP_001171896.1:n.-53+11250A=
NM_001354604.1:c.104+35241A= NP_001341533.1:n.104+35241A=
NM_001354605.1:c.104+35241A= NP_001341534.1:n.104+35241A=
NM_001354605.2:c.104+35241A= NP_001341534.1:n.104+35241A=
NM_001354606.1:c.104+35241A= NP_001341535.1:n.104+35241A=
NM_001354606.2:c.104+35241A= NP_001341535.1:n.104+35241A=
NM_001354607.1:c.-76-19445A= NP_001341536.1:n.-76-19445A=
NM_001354607.2:c.-76-19445A= NP_001341536.1:n.-76-19445A=
NM_001354608.1:c.-92+35241A= NP_001341537.1:n.-92+35241A=
NM_001354608.2:c.-92+35241A= NP_001341537.1:n.-92+35241A=
NM_006722.2:c.101+11000A= NP_006713.1:n.101+11000A=
NM_006722.3:c.101+11000A= NP_006713.1:n.101+11000A=
NM_198159.2:c.104+35241A= NP_937802.1:n.104+35241A=
NM_198159.3:c.104+35241A= NP_937802.1:n.104+35241A=
ENST00000328528.10:c.101+11000A= ENSP00000327867.6:n.101+11000A=
ENST00000352241.8:c.104+35241A= ENSP00000295600.7:n.104+35241A=
ENST00000429090.5:c.-277-3876A= ENSP00000407620.1:n.-277-3876A=
ENST00000433517.5:c.-53+12153A= ENSP00000411389.1:n.-53+12153A=
ENST00000448226.6:c.104+35241A= ENSP00000391803.2:n.104+35241A=
ENST00000448226.9:c.101+11000A= ENSP00000391803.3:n.101+11000A=
ENST00000457080.5:c.101+11000A= ENSP00000391276.1:n.101+11000A=
ENST00000472437.5:c.-53+11250A= ENSP00000418845.1:n.-53+11250A=
ENST00000495741.1:n.220+35241A=
ENST00000642352.1:c.104+35241A= ENSP00000494105.1:n.104+35241A=
ENST00000687384.1:c.-76-19445A= ENSP00000510225.1:n.-76-19445A=
ENST00000693031.1:c.104+35241A= ENSP00000509845.1:n.104+35241A=
XM_005264754.1:c.104+35241A= XP_005264811.1:n.104+35241A=
XM_006713164.2:c.-92+35241A= XP_006713227.1:n.-92+35241A=
XM_011533722.1:c.104+35241A= XP_011532024.1:n.104+35241A=
XM_011533724.1:c.-53+11250A= XP_011532026.1:n.-53+11250A=
XM_011533725.1:c.104+35241A= XP_011532027.1:n.104+35241A=
XM_011533726.1:c.104+35241A= XP_011532028.1:n.104+35241A=