Canonical Allele Identifier: CA434433455
Community Standard Title: NM_001354604.2(MITF):c.558G>A (p.Thr186=)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69938025G>A , CM000665.2:g.69938025G>A GRCh38
NC_000003.11:g.69987176G>A , CM000665.1:g.69987176G>A GRCh37
NC_000003.10:g.70069866G>A NCBI36
NG_011631.1:g.203544G>A , LRG_776:g.203544G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.558G>A MANE Select NP_001341533.1:p.Thr186=
ENST00000352241.9:c.558G>A MANE Select ENSP00000295600.8:p.Thr186=
NM_000248.4:c.237G>A MANE Plus Clinical NP_000239.1:p.Thr79=
ENST00000394351.9:c.237G>A MANE Plus Clinical ENSP00000377880.3:p.Thr79=
NM_000248.3:c.237G>A , LRG_776t1:c.237G>A NP_000239.1:p.Thr79=
NM_001184967.1:c.402G>A NP_001171896.1:p.Thr134=
NM_001184967.2:c.402G>A NP_001171896.1:p.Thr134=
NM_001184968.1:c.237G>A NP_001171897.1:p.Thr79=
NM_001184968.2:c.237G>A NP_001171897.1:p.Thr79=
NM_001354604.1:c.558G>A NP_001341533.1:p.Thr186=
NM_001354605.1:c.555G>A NP_001341534.1:p.Thr185=
NM_001354605.2:c.555G>A NP_001341534.1:p.Thr185=
NM_001354606.1:c.555G>A NP_001341535.1:p.Thr185=
NM_001354606.2:c.555G>A NP_001341535.1:p.Thr185=
NM_001354607.1:c.507G>A NP_001341536.1:p.Thr169=
NM_001354607.2:c.507G>A NP_001341536.1:p.Thr169=
NM_001354608.1:c.402G>A NP_001341537.1:p.Thr134=
NM_001354608.2:c.402G>A NP_001341537.1:p.Thr134=
NM_006722.2:c.555G>A NP_006713.1:p.Thr185=
NM_006722.3:c.555G>A NP_006713.1:p.Thr185=
NM_198158.2:c.237G>A NP_937801.1:p.Thr79=
NM_198158.3:c.237G>A NP_937801.1:p.Thr79=
NM_198159.2:c.558G>A NP_937802.1:p.Thr186=
NM_198159.3:c.558G>A NP_937802.1:p.Thr186=
NM_198177.2:c.510G>A NP_937820.1:p.Thr170=
NM_198177.3:c.510G>A NP_937820.1:p.Thr170=
NM_198178.2:c.93+144G>A NP_937821.2:n.93+144G>A
NM_198178.3:c.93+144G>A NP_937821.2:n.93+144G>A
ENST00000314557.10:c.237G>A ENSP00000324246.6:p.Thr79=
ENST00000314589.10:c.510G>A ENSP00000324443.5:p.Thr170=
ENST00000314589.11:c.510G>A ENSP00000324443.5:p.Thr170=
ENST00000314589.9:c.510G>A ENSP00000324443.5:p.Thr170=
ENST00000328528.10:c.555G>A ENSP00000327867.6:p.Thr185=
ENST00000352241.8:c.558G>A ENSP00000295600.7:p.Thr186=
ENST00000394348.2:c.237G>A ENSP00000481286.1:p.Thr79=
ENST00000394351.7:c.237G>A ENSP00000377880.3:p.Thr79=
ENST00000433517.5:c.258+144G>A ENSP00000411389.1:n.258+144G>A
ENST00000448226.6:c.558G>A ENSP00000391803.2:p.Thr186=
ENST00000448226.9:c.555G>A ENSP00000391803.3:p.Thr185=
ENST00000451708.5:c.510G>A ENSP00000398639.1:p.Thr170=
ENST00000461014.1:n.548G>A
ENST00000472437.5:c.402G>A ENSP00000418845.1:p.Thr134=
ENST00000478490.5:c.237G>A ENSP00000433487.1:p.Thr79=
ENST00000531774.1:c.93+144G>A ENSP00000435909.1:n.93+144G>A
ENST00000642352.1:c.558G>A ENSP00000494105.1:p.Thr186=
ENST00000687384.1:c.507G>A ENSP00000510225.1:p.Thr169=
ENST00000689390.1:n.732G>A
ENST00000693031.1:c.483G>A ENSP00000509845.1:p.Thr161=
ENST00000693549.1:c.510G>A ENSP00000509358.1:p.Thr170=
XM_005264754.1:c.558G>A XP_005264811.1:p.Thr186=
XM_005264755.2:c.510G>A XP_005264812.1:p.Thr170=
XM_006713164.2:c.402G>A XP_006713227.1:p.Thr134=
XM_011533722.1:c.555G>A XP_011532024.1:p.Thr185=
XM_011533723.1:c.507G>A XP_011532025.1:p.Thr169=
XM_011533724.1:c.402G>A XP_011532026.1:p.Thr134=
XM_011533725.1:c.414+144G>A XP_011532027.1:n.414+144G>A
XM_011533726.1:c.414+144G>A XP_011532028.1:n.414+144G>A