Canonical Allele Identifier: CA353561321
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69949088A>G , CM000665.2:g.69949088A>G GRCh38
NC_000003.11:g.69998239A>G , CM000665.1:g.69998239A>G GRCh37
NC_000003.10:g.70080929A>G NCBI36
NG_011631.1:g.214607A>G , LRG_776:g.214607A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.752A>G ENSP00000324443.5:p.Asn251Ser
ENST00000687384.1:c.749A>G ENSP00000510225.1:p.Asn250Ser
ENST00000689390.1:n.974A>G
ENST00000693031.1:c.725A>G ENSP00000509845.1:p.Asn242Ser
ENST00000693549.1:c.752A>G ENSP00000509358.1:p.Asn251Ser
ENST00000314589.10:c.752A>G ENSP00000324443.5:p.Asn251Ser
ENST00000352241.9:c.800A>G MANE Select ENSP00000295600.8:p.Asn267Ser
ENST00000394351.9:c.479A>G MANE Plus Clinical ENSP00000377880.3:p.Asn160Ser
ENST00000448226.9:c.797A>G ENSP00000391803.3:p.Asn266Ser
ENST00000642352.1:c.800A>G ENSP00000494105.1:p.Asn267Ser
ENST00000314557.10:c.479A>G ENSP00000324246.6:p.Asn160Ser
ENST00000314589.9:c.752A>G ENSP00000324443.5:p.Asn251Ser
ENST00000328528.10:c.797A>G ENSP00000327867.6:p.Asn266Ser
ENST00000352241.8:c.800A>G ENSP00000295600.7:p.Asn267Ser
ENST00000394351.7:c.479A>G ENSP00000377880.3:p.Asn160Ser
ENST00000448226.6:c.800A>G ENSP00000391803.2:p.Asn267Ser
ENST00000451708.5:c.752A>G ENSP00000398639.1:p.Asn251Ser
ENST00000472437.5:c.644A>G ENSP00000418845.1:p.Asn215Ser
ENST00000478490.5:c.*126A>G ENSP00000433487.1:n.*126A>G
ENST00000531774.1:c.311A>G ENSP00000435909.1:p.Asn104Ser
NM_000248.3:c.479A>G , LRG_776t1:c.479A>G NP_000239.1:p.Asn160Ser
NM_001184967.1:c.644A>G NP_001171896.1:p.Asn215Ser
NM_006722.2:c.797A>G NP_006713.1:p.Asn266Ser
NM_198158.2:c.479A>G NP_937801.1:p.Asn160Ser
NM_198159.2:c.800A>G NP_937802.1:p.Asn267Ser
NM_198177.2:c.752A>G NP_937820.1:p.Asn251Ser
NM_198178.2:c.311A>G NP_937821.2:p.Asn104Ser
XM_005264754.1:c.800A>G XP_005264811.1:p.Asn267Ser
XM_005264755.2:c.752A>G XP_005264812.1:p.Asn251Ser
XM_006713164.2:c.644A>G XP_006713227.1:p.Asn215Ser
XM_011533722.1:c.797A>G XP_011532024.1:p.Asn266Ser
XM_011533723.1:c.749A>G XP_011532025.1:p.Asn250Ser
XM_011533724.1:c.644A>G XP_011532026.1:p.Asn215Ser
XM_011533725.1:c.632A>G XP_011532027.1:p.Asn211Ser
XM_011533726.1:c.632A>G XP_011532028.1:p.Asn211Ser
NM_001354604.1:c.800A>G NP_001341533.1:p.Asn267Ser
NM_001354605.1:c.797A>G NP_001341534.1:p.Asn266Ser
NM_001354606.1:c.797A>G NP_001341535.1:p.Asn266Ser
NM_001354607.1:c.749A>G NP_001341536.1:p.Asn250Ser
NM_001354608.1:c.644A>G NP_001341537.1:p.Asn215Ser
NM_001184967.2:c.644A>G NP_001171896.1:p.Asn215Ser
NM_001354604.2:c.800A>G MANE Select NP_001341533.1:p.Asn267Ser
NM_001354605.2:c.797A>G NP_001341534.1:p.Asn266Ser
NM_001354606.2:c.797A>G NP_001341535.1:p.Asn266Ser
NM_001354607.2:c.749A>G NP_001341536.1:p.Asn250Ser
NM_001354608.2:c.644A>G NP_001341537.1:p.Asn215Ser
NM_198158.3:c.479A>G NP_937801.1:p.Asn160Ser
NM_198159.3:c.800A>G NP_937802.1:p.Asn267Ser
NM_198177.3:c.752A>G NP_937820.1:p.Asn251Ser
NM_198178.3:c.311A>G NP_937821.2:p.Asn104Ser
NM_000248.4:c.479A>G MANE Plus Clinical NP_000239.1:p.Asn160Ser
NM_006722.3:c.797A>G NP_006713.1:p.Asn266Ser