Canonical Allele Identifier: CA1373447473
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69956452A= , CM000665.2:g.69956452A= GRCh38
NC_000003.11:g.70005603A= , CM000665.1:g.70005603A= GRCh37
NC_000003.10:g.70088293A= NCBI36
NG_011631.1:g.221971A= , LRG_776:g.221971A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.890-3A= ENSP00000324443.5:n.890-3A=
ENST00000687384.1:c.887-3A= ENSP00000510225.1:n.887-3A=
ENST00000689390.1:n.1112-3A=
ENST00000693031.1:c.863-3A= ENSP00000509845.1:n.863-3A=
ENST00000693549.1:c.890-3A= ENSP00000509358.1:n.890-3A=
ENST00000314589.10:c.890-3A= ENSP00000324443.5:n.890-3A=
ENST00000352241.9:c.956-3A= MANE Select ENSP00000295600.8:n.956-3A=
ENST00000394351.9:c.635-3A= MANE Plus Clinical ENSP00000377880.3:n.635-3A=
ENST00000448226.9:c.935-3A= ENSP00000391803.3:n.935-3A=
ENST00000642352.1:c.938-3A= ENSP00000494105.1:n.938-3A=
ENST00000314557.10:c.617-3A= ENSP00000324246.6:n.617-3A=
ENST00000314589.9:c.890-3A= ENSP00000324443.5:n.890-3A=
ENST00000328528.10:c.935-3A= ENSP00000327867.6:n.935-3A=
ENST00000352241.8:c.938-3A= ENSP00000295600.7:n.938-3A=
ENST00000394351.7:c.635-3A= ENSP00000377880.3:n.635-3A=
ENST00000448226.6:c.956-3A= ENSP00000391803.2:n.956-3A=
ENST00000451708.5:c.908-3A= ENSP00000398639.1:n.908-3A=
ENST00000472437.5:c.782-3A= ENSP00000418845.1:n.782-3A=
ENST00000478490.5:c.*282-3A= ENSP00000433487.1:n.*282-3A=
ENST00000531774.1:c.449-3A= ENSP00000435909.1:n.449-3A=
NM_000248.3:c.635-3A= , LRG_776t1:c.635-3A= NP_000239.1:n.635-3A=
NM_001184967.1:c.782-3A= NP_001171896.1:n.782-3A=
NM_006722.2:c.935-3A= NP_006713.1:n.935-3A=
NM_198158.2:c.617-3A= NP_937801.1:n.617-3A=
NM_198159.2:c.938-3A= NP_937802.1:n.938-3A=
NM_198177.2:c.890-3A= NP_937820.1:n.890-3A=
NM_198178.2:c.449-3A= NP_937821.2:n.449-3A=
XM_005264754.1:c.956-3A= XP_005264811.1:n.956-3A=
XM_005264755.2:c.908-3A= XP_005264812.1:n.908-3A=
XM_006713164.2:c.800-3A= XP_006713227.1:n.800-3A=
XM_011533722.1:c.953-3A= XP_011532024.1:n.953-3A=
XM_011533723.1:c.905-3A= XP_011532025.1:n.905-3A=
XM_011533724.1:c.800-3A= XP_011532026.1:n.800-3A=
XM_011533725.1:c.788-3A= XP_011532027.1:n.788-3A=
XM_011533726.1:c.770-3A= XP_011532028.1:n.770-3A=
NM_001354604.1:c.956-3A= NP_001341533.1:n.956-3A=
NM_001354605.1:c.953-3A= NP_001341534.1:n.953-3A=
NM_001354606.1:c.935-3A= NP_001341535.1:n.935-3A=
NM_001354607.1:c.887-3A= NP_001341536.1:n.887-3A=
NM_001354608.1:c.782-3A= NP_001341537.1:n.782-3A=
NM_001184967.2:c.782-3A= NP_001171896.1:n.782-3A=
NM_001354604.2:c.956-3A= MANE Select NP_001341533.1:n.956-3A=
NM_001354605.2:c.953-3A= NP_001341534.1:n.953-3A=
NM_001354606.2:c.935-3A= NP_001341535.1:n.935-3A=
NM_001354607.2:c.887-3A= NP_001341536.1:n.887-3A=
NM_001354608.2:c.782-3A= NP_001341537.1:n.782-3A=
NM_198158.3:c.617-3A= NP_937801.1:n.617-3A=
NM_198159.3:c.938-3A= NP_937802.1:n.938-3A=
NM_198177.3:c.890-3A= NP_937820.1:n.890-3A=
NM_198178.3:c.449-3A= NP_937821.2:n.449-3A=
NM_000248.4:c.635-3A= MANE Plus Clinical NP_000239.1:n.635-3A=
NM_006722.3:c.935-3A= NP_006713.1:n.935-3A=