Canonical Allele Identifier: CA353561647
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951874A>G , CM000665.2:g.69951874A>G GRCh38
NC_000003.11:g.70001025A>G , CM000665.1:g.70001025A>G GRCh37
NC_000003.10:g.70083715A>G NCBI36
NG_011631.1:g.217393A>G , LRG_776:g.217393A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.877A>G ENSP00000324443.5:p.Asn293Asp
ENST00000687384.1:c.874A>G ENSP00000510225.1:p.Asn292Asp
ENST00000689390.1:n.1099A>G
ENST00000693031.1:c.850A>G ENSP00000509845.1:p.Asn284Asp
ENST00000693549.1:c.877A>G ENSP00000509358.1:p.Asn293Asp
ENST00000314589.10:c.877A>G ENSP00000324443.5:p.Asn293Asp
ENST00000352241.9:c.943A>G MANE Select ENSP00000295600.8:p.Asn315Asp
ENST00000394351.9:c.622A>G MANE Plus Clinical ENSP00000377880.3:p.Asn208Asp
ENST00000448226.9:c.922A>G ENSP00000391803.3:p.Asn308Asp
ENST00000642352.1:c.925A>G ENSP00000494105.1:p.Asn309Asp
ENST00000314557.10:c.604A>G ENSP00000324246.6:p.Asn202Asp
ENST00000314589.9:c.877A>G ENSP00000324443.5:p.Asn293Asp
ENST00000328528.10:c.922A>G ENSP00000327867.6:p.Asn308Asp
ENST00000352241.8:c.925A>G ENSP00000295600.7:p.Asn309Asp
ENST00000394351.7:c.622A>G ENSP00000377880.3:p.Asn208Asp
ENST00000448226.6:c.943A>G ENSP00000391803.2:p.Asn315Asp
ENST00000451708.5:c.895A>G ENSP00000398639.1:p.Asn299Asp
ENST00000472437.5:c.769A>G ENSP00000418845.1:p.Asn257Asp
ENST00000478490.5:c.*269A>G ENSP00000433487.1:n.*269A>G
ENST00000531774.1:c.436A>G ENSP00000435909.1:p.Asn146Asp
NM_000248.3:c.622A>G , LRG_776t1:c.622A>G NP_000239.1:p.Asn208Asp
NM_001184967.1:c.769A>G NP_001171896.1:p.Asn257Asp
NM_006722.2:c.922A>G NP_006713.1:p.Asn308Asp
NM_198158.2:c.604A>G NP_937801.1:p.Asn202Asp
NM_198159.2:c.925A>G NP_937802.1:p.Asn309Asp
NM_198177.2:c.877A>G NP_937820.1:p.Asn293Asp
NM_198178.2:c.436A>G NP_937821.2:p.Asn146Asp
XM_005264754.1:c.943A>G XP_005264811.1:p.Asn315Asp
XM_005264755.2:c.895A>G XP_005264812.1:p.Asn299Asp
XM_006713164.2:c.787A>G XP_006713227.1:p.Asn263Asp
XM_011533722.1:c.940A>G XP_011532024.1:p.Asn314Asp
XM_011533723.1:c.892A>G XP_011532025.1:p.Asn298Asp
XM_011533724.1:c.787A>G XP_011532026.1:p.Asn263Asp
XM_011533725.1:c.775A>G XP_011532027.1:p.Asn259Asp
XM_011533726.1:c.757A>G XP_011532028.1:p.Asn253Asp
NM_001354604.1:c.943A>G NP_001341533.1:p.Asn315Asp
NM_001354605.1:c.940A>G NP_001341534.1:p.Asn314Asp
NM_001354606.1:c.922A>G NP_001341535.1:p.Asn308Asp
NM_001354607.1:c.874A>G NP_001341536.1:p.Asn292Asp
NM_001354608.1:c.769A>G NP_001341537.1:p.Asn257Asp
NM_001184967.2:c.769A>G NP_001171896.1:p.Asn257Asp
NM_001354604.2:c.943A>G MANE Select NP_001341533.1:p.Asn315Asp
NM_001354605.2:c.940A>G NP_001341534.1:p.Asn314Asp
NM_001354606.2:c.922A>G NP_001341535.1:p.Asn308Asp
NM_001354607.2:c.874A>G NP_001341536.1:p.Asn292Asp
NM_001354608.2:c.769A>G NP_001341537.1:p.Asn257Asp
NM_198158.3:c.604A>G NP_937801.1:p.Asn202Asp
NM_198159.3:c.925A>G NP_937802.1:p.Asn309Asp
NM_198177.3:c.877A>G NP_937820.1:p.Asn293Asp
NM_198178.3:c.436A>G NP_937821.2:p.Asn146Asp
NM_000248.4:c.622A>G MANE Plus Clinical NP_000239.1:p.Asn208Asp
NM_006722.3:c.922A>G NP_006713.1:p.Asn308Asp