Canonical Allele Identifier: CA353561663
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951880A>G , CM000665.2:g.69951880A>G GRCh38
NC_000003.11:g.70001031A>G , CM000665.1:g.70001031A>G GRCh37
NC_000003.10:g.70083721A>G NCBI36
NG_011631.1:g.217399A>G , LRG_776:g.217399A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.883A>G ENSP00000324443.5:p.Asn295Asp
ENST00000687384.1:c.880A>G ENSP00000510225.1:p.Asn294Asp
ENST00000689390.1:n.1105A>G
ENST00000693031.1:c.856A>G ENSP00000509845.1:p.Asn286Asp
ENST00000693549.1:c.883A>G ENSP00000509358.1:p.Asn295Asp
ENST00000314589.10:c.883A>G ENSP00000324443.5:p.Asn295Asp
ENST00000352241.9:c.949A>G MANE Select ENSP00000295600.8:p.Asn317Asp
ENST00000394351.9:c.628A>G MANE Plus Clinical ENSP00000377880.3:p.Asn210Asp
ENST00000448226.9:c.928A>G ENSP00000391803.3:p.Asn310Asp
ENST00000642352.1:c.931A>G ENSP00000494105.1:p.Asn311Asp
ENST00000314557.10:c.610A>G ENSP00000324246.6:p.Asn204Asp
ENST00000314589.9:c.883A>G ENSP00000324443.5:p.Asn295Asp
ENST00000328528.10:c.928A>G ENSP00000327867.6:p.Asn310Asp
ENST00000352241.8:c.931A>G ENSP00000295600.7:p.Asn311Asp
ENST00000394351.7:c.628A>G ENSP00000377880.3:p.Asn210Asp
ENST00000448226.6:c.949A>G ENSP00000391803.2:p.Asn317Asp
ENST00000451708.5:c.901A>G ENSP00000398639.1:p.Asn301Asp
ENST00000472437.5:c.775A>G ENSP00000418845.1:p.Asn259Asp
ENST00000478490.5:c.*275A>G ENSP00000433487.1:n.*275A>G
ENST00000531774.1:c.442A>G ENSP00000435909.1:p.Asn148Asp
NM_000248.3:c.628A>G , LRG_776t1:c.628A>G NP_000239.1:p.Asn210Asp
NM_001184967.1:c.775A>G NP_001171896.1:p.Asn259Asp
NM_006722.2:c.928A>G NP_006713.1:p.Asn310Asp
NM_198158.2:c.610A>G NP_937801.1:p.Asn204Asp
NM_198159.2:c.931A>G NP_937802.1:p.Asn311Asp
NM_198177.2:c.883A>G NP_937820.1:p.Asn295Asp
NM_198178.2:c.442A>G NP_937821.2:p.Asn148Asp
XM_005264754.1:c.949A>G XP_005264811.1:p.Asn317Asp
XM_005264755.2:c.901A>G XP_005264812.1:p.Asn301Asp
XM_006713164.2:c.793A>G XP_006713227.1:p.Asn265Asp
XM_011533722.1:c.946A>G XP_011532024.1:p.Asn316Asp
XM_011533723.1:c.898A>G XP_011532025.1:p.Asn300Asp
XM_011533724.1:c.793A>G XP_011532026.1:p.Asn265Asp
XM_011533725.1:c.781A>G XP_011532027.1:p.Asn261Asp
XM_011533726.1:c.763A>G XP_011532028.1:p.Asn255Asp
NM_001354604.1:c.949A>G NP_001341533.1:p.Asn317Asp
NM_001354605.1:c.946A>G NP_001341534.1:p.Asn316Asp
NM_001354606.1:c.928A>G NP_001341535.1:p.Asn310Asp
NM_001354607.1:c.880A>G NP_001341536.1:p.Asn294Asp
NM_001354608.1:c.775A>G NP_001341537.1:p.Asn259Asp
NM_001184967.2:c.775A>G NP_001171896.1:p.Asn259Asp
NM_001354604.2:c.949A>G MANE Select NP_001341533.1:p.Asn317Asp
NM_001354605.2:c.946A>G NP_001341534.1:p.Asn316Asp
NM_001354606.2:c.928A>G NP_001341535.1:p.Asn310Asp
NM_001354607.2:c.880A>G NP_001341536.1:p.Asn294Asp
NM_001354608.2:c.775A>G NP_001341537.1:p.Asn259Asp
NM_198158.3:c.610A>G NP_937801.1:p.Asn204Asp
NM_198159.3:c.931A>G NP_937802.1:p.Asn311Asp
NM_198177.3:c.883A>G NP_937820.1:p.Asn295Asp
NM_198178.3:c.442A>G NP_937821.2:p.Asn148Asp
NM_000248.4:c.628A>G MANE Plus Clinical NP_000239.1:p.Asn210Asp
NM_006722.3:c.928A>G NP_006713.1:p.Asn310Asp