Canonical Allele Identifier: CA353561667
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951881A>T , CM000665.2:g.69951881A>T GRCh38
NC_000003.11:g.70001032A>T , CM000665.1:g.70001032A>T GRCh37
NC_000003.10:g.70083722A>T NCBI36
NG_011631.1:g.217400A>T , LRG_776:g.217400A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.884A>T ENSP00000324443.5:p.Asn295Ile
ENST00000687384.1:c.881A>T ENSP00000510225.1:p.Asn294Ile
ENST00000689390.1:n.1106A>T
ENST00000693031.1:c.857A>T ENSP00000509845.1:p.Asn286Ile
ENST00000693549.1:c.884A>T ENSP00000509358.1:p.Asn295Ile
ENST00000314589.10:c.884A>T ENSP00000324443.5:p.Asn295Ile
ENST00000352241.9:c.950A>T MANE Select ENSP00000295600.8:p.Asn317Ile
ENST00000394351.9:c.629A>T MANE Plus Clinical ENSP00000377880.3:p.Asn210Ile
ENST00000448226.9:c.929A>T ENSP00000391803.3:p.Asn310Ile
ENST00000642352.1:c.932A>T ENSP00000494105.1:p.Asn311Ile
ENST00000314557.10:c.611A>T ENSP00000324246.6:p.Asn204Ile
ENST00000314589.9:c.884A>T ENSP00000324443.5:p.Asn295Ile
ENST00000328528.10:c.929A>T ENSP00000327867.6:p.Asn310Ile
ENST00000352241.8:c.932A>T ENSP00000295600.7:p.Asn311Ile
ENST00000394351.7:c.629A>T ENSP00000377880.3:p.Asn210Ile
ENST00000448226.6:c.950A>T ENSP00000391803.2:p.Asn317Ile
ENST00000451708.5:c.902A>T ENSP00000398639.1:p.Asn301Ile
ENST00000472437.5:c.776A>T ENSP00000418845.1:p.Asn259Ile
ENST00000478490.5:c.*276A>T ENSP00000433487.1:n.*276A>T
ENST00000531774.1:c.443A>T ENSP00000435909.1:p.Asn148Ile
NM_000248.3:c.629A>T , LRG_776t1:c.629A>T NP_000239.1:p.Asn210Ile
NM_001184967.1:c.776A>T NP_001171896.1:p.Asn259Ile
NM_006722.2:c.929A>T NP_006713.1:p.Asn310Ile
NM_198158.2:c.611A>T NP_937801.1:p.Asn204Ile
NM_198159.2:c.932A>T NP_937802.1:p.Asn311Ile
NM_198177.2:c.884A>T NP_937820.1:p.Asn295Ile
NM_198178.2:c.443A>T NP_937821.2:p.Asn148Ile
XM_005264754.1:c.950A>T XP_005264811.1:p.Asn317Ile
XM_005264755.2:c.902A>T XP_005264812.1:p.Asn301Ile
XM_006713164.2:c.794A>T XP_006713227.1:p.Asn265Ile
XM_011533722.1:c.947A>T XP_011532024.1:p.Asn316Ile
XM_011533723.1:c.899A>T XP_011532025.1:p.Asn300Ile
XM_011533724.1:c.794A>T XP_011532026.1:p.Asn265Ile
XM_011533725.1:c.782A>T XP_011532027.1:p.Asn261Ile
XM_011533726.1:c.764A>T XP_011532028.1:p.Asn255Ile
NM_001354604.1:c.950A>T NP_001341533.1:p.Asn317Ile
NM_001354605.1:c.947A>T NP_001341534.1:p.Asn316Ile
NM_001354606.1:c.929A>T NP_001341535.1:p.Asn310Ile
NM_001354607.1:c.881A>T NP_001341536.1:p.Asn294Ile
NM_001354608.1:c.776A>T NP_001341537.1:p.Asn259Ile
NM_001184967.2:c.776A>T NP_001171896.1:p.Asn259Ile
NM_001354604.2:c.950A>T MANE Select NP_001341533.1:p.Asn317Ile
NM_001354605.2:c.947A>T NP_001341534.1:p.Asn316Ile
NM_001354606.2:c.929A>T NP_001341535.1:p.Asn310Ile
NM_001354607.2:c.881A>T NP_001341536.1:p.Asn294Ile
NM_001354608.2:c.776A>T NP_001341537.1:p.Asn259Ile
NM_198158.3:c.611A>T NP_937801.1:p.Asn204Ile
NM_198159.3:c.932A>T NP_937802.1:p.Asn311Ile
NM_198177.3:c.884A>T NP_937820.1:p.Asn295Ile
NM_198178.3:c.443A>T NP_937821.2:p.Asn148Ile
NM_000248.4:c.629A>T MANE Plus Clinical NP_000239.1:p.Asn210Ile
NM_006722.3:c.929A>T NP_006713.1:p.Asn310Ile