Canonical Allele Identifier: CA353561593
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951853A>G , CM000665.2:g.69951853A>G GRCh38
NC_000003.11:g.70001004A>G , CM000665.1:g.70001004A>G GRCh37
NC_000003.10:g.70083694A>G NCBI36
NG_011631.1:g.217372A>G , LRG_776:g.217372A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.856A>G ENSP00000324443.5:p.Lys286Glu
ENST00000687384.1:c.853A>G ENSP00000510225.1:p.Lys285Glu
ENST00000689390.1:n.1078A>G
ENST00000693031.1:c.829A>G ENSP00000509845.1:p.Lys277Glu
ENST00000693549.1:c.856A>G ENSP00000509358.1:p.Lys286Glu
ENST00000314589.10:c.856A>G ENSP00000324443.5:p.Lys286Glu
ENST00000352241.9:c.922A>G MANE Select ENSP00000295600.8:p.Lys308Glu
ENST00000394351.9:c.601A>G MANE Plus Clinical ENSP00000377880.3:p.Lys201Glu
ENST00000448226.9:c.901A>G ENSP00000391803.3:p.Lys301Glu
ENST00000642352.1:c.904A>G ENSP00000494105.1:p.Lys302Glu
ENST00000314557.10:c.583A>G ENSP00000324246.6:p.Lys195Glu
ENST00000314589.9:c.856A>G ENSP00000324443.5:p.Lys286Glu
ENST00000328528.10:c.901A>G ENSP00000327867.6:p.Lys301Glu
ENST00000352241.8:c.904A>G ENSP00000295600.7:p.Lys302Glu
ENST00000394351.7:c.601A>G ENSP00000377880.3:p.Lys201Glu
ENST00000448226.6:c.922A>G ENSP00000391803.2:p.Lys308Glu
ENST00000451708.5:c.874A>G ENSP00000398639.1:p.Lys292Glu
ENST00000472437.5:c.748A>G ENSP00000418845.1:p.Lys250Glu
ENST00000478490.5:c.*248A>G ENSP00000433487.1:n.*248A>G
ENST00000531774.1:c.415A>G ENSP00000435909.1:p.Lys139Glu
NM_000248.3:c.601A>G , LRG_776t1:c.601A>G NP_000239.1:p.Lys201Glu
NM_001184967.1:c.748A>G NP_001171896.1:p.Lys250Glu
NM_006722.2:c.901A>G NP_006713.1:p.Lys301Glu
NM_198158.2:c.583A>G NP_937801.1:p.Lys195Glu
NM_198159.2:c.904A>G NP_937802.1:p.Lys302Glu
NM_198177.2:c.856A>G NP_937820.1:p.Lys286Glu
NM_198178.2:c.415A>G NP_937821.2:p.Lys139Glu
XM_005264754.1:c.922A>G XP_005264811.1:p.Lys308Glu
XM_005264755.2:c.874A>G XP_005264812.1:p.Lys292Glu
XM_006713164.2:c.766A>G XP_006713227.1:p.Lys256Glu
XM_011533722.1:c.919A>G XP_011532024.1:p.Lys307Glu
XM_011533723.1:c.871A>G XP_011532025.1:p.Lys291Glu
XM_011533724.1:c.766A>G XP_011532026.1:p.Lys256Glu
XM_011533725.1:c.754A>G XP_011532027.1:p.Lys252Glu
XM_011533726.1:c.736A>G XP_011532028.1:p.Lys246Glu
NM_001354604.1:c.922A>G NP_001341533.1:p.Lys308Glu
NM_001354605.1:c.919A>G NP_001341534.1:p.Lys307Glu
NM_001354606.1:c.901A>G NP_001341535.1:p.Lys301Glu
NM_001354607.1:c.853A>G NP_001341536.1:p.Lys285Glu
NM_001354608.1:c.748A>G NP_001341537.1:p.Lys250Glu
NM_001184967.2:c.748A>G NP_001171896.1:p.Lys250Glu
NM_001354604.2:c.922A>G MANE Select NP_001341533.1:p.Lys308Glu
NM_001354605.2:c.919A>G NP_001341534.1:p.Lys307Glu
NM_001354606.2:c.901A>G NP_001341535.1:p.Lys301Glu
NM_001354607.2:c.853A>G NP_001341536.1:p.Lys285Glu
NM_001354608.2:c.748A>G NP_001341537.1:p.Lys250Glu
NM_198158.3:c.583A>G NP_937801.1:p.Lys195Glu
NM_198159.3:c.904A>G NP_937802.1:p.Lys302Glu
NM_198177.3:c.856A>G NP_937820.1:p.Lys286Glu
NM_198178.3:c.415A>G NP_937821.2:p.Lys139Glu
NM_000248.4:c.601A>G MANE Plus Clinical NP_000239.1:p.Lys201Glu
NM_006722.3:c.901A>G NP_006713.1:p.Lys301Glu