Canonical Allele Identifier: CA353559656
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965014T>G , CM000665.2:g.69965014T>G GRCh38
NC_000003.11:g.70014165T>G , CM000665.1:g.70014165T>G GRCh37
NC_000003.10:g.70096855T>G NCBI36
NG_011631.1:g.230533T>G , LRG_776:g.230533T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1281T>G ENSP00000324443.5:p.Asp427Glu
ENST00000687384.1:c.1278T>G ENSP00000510225.1:p.Asp426Glu
ENST00000689390.1:n.1503T>G
ENST00000693031.1:c.1254T>G ENSP00000509845.1:p.Asp418Glu
ENST00000693549.1:c.*92T>G ENSP00000509358.1:n.*92T>G
ENST00000314589.10:c.1281T>G ENSP00000324443.5:p.Asp427Glu
ENST00000352241.9:c.1347T>G MANE Select ENSP00000295600.8:p.Asp449Glu
ENST00000394351.9:c.1026T>G MANE Plus Clinical ENSP00000377880.3:p.Asp342Glu
ENST00000448226.9:c.1326T>G ENSP00000391803.3:p.Asp442Glu
ENST00000642352.1:c.1329T>G ENSP00000494105.1:p.Asp443Glu
ENST00000314557.10:c.1008T>G ENSP00000324246.6:p.Asp336Glu
ENST00000314589.9:c.1281T>G ENSP00000324443.5:p.Asp427Glu
ENST00000328528.10:c.1326T>G ENSP00000327867.6:p.Asp442Glu
ENST00000352241.8:c.1329T>G ENSP00000295600.7:p.Asp443Glu
ENST00000394351.7:c.1026T>G ENSP00000377880.3:p.Asp342Glu
ENST00000448226.6:c.1347T>G ENSP00000391803.2:p.Asp449Glu
ENST00000472437.5:c.1173T>G ENSP00000418845.1:p.Asp391Glu
ENST00000478490.5:c.*673T>G ENSP00000433487.1:n.*673T>G
ENST00000531774.1:c.840T>G ENSP00000435909.1:p.Asp280Glu
NM_000248.3:c.1026T>G , LRG_776t1:c.1026T>G NP_000239.1:p.Asp342Glu
NM_001184967.1:c.1173T>G NP_001171896.1:p.Asp391Glu
NM_006722.2:c.1326T>G NP_006713.1:p.Asp442Glu
NM_198158.2:c.1008T>G NP_937801.1:p.Asp336Glu
NM_198159.2:c.1329T>G NP_937802.1:p.Asp443Glu
NM_198177.2:c.1281T>G NP_937820.1:p.Asp427Glu
NM_198178.2:c.840T>G NP_937821.2:p.Asp280Glu
XM_005264754.1:c.1347T>G XP_005264811.1:p.Asp449Glu
XM_005264755.2:c.1299T>G XP_005264812.1:p.Asp433Glu
XM_006713164.2:c.1191T>G XP_006713227.1:p.Asp397Glu
XM_011533722.1:c.1344T>G XP_011532024.1:p.Asp448Glu
XM_011533723.1:c.1296T>G XP_011532025.1:p.Asp432Glu
XM_011533724.1:c.1191T>G XP_011532026.1:p.Asp397Glu
XM_011533725.1:c.1179T>G XP_011532027.1:p.Asp393Glu
XM_011533726.1:c.1161T>G XP_011532028.1:p.Asp387Glu
NM_001354604.1:c.1347T>G NP_001341533.1:p.Asp449Glu
NM_001354605.1:c.1344T>G NP_001341534.1:p.Asp448Glu
NM_001354606.1:c.1326T>G NP_001341535.1:p.Asp442Glu
NM_001354607.1:c.1278T>G NP_001341536.1:p.Asp426Glu
NM_001354608.1:c.1173T>G NP_001341537.1:p.Asp391Glu
NM_001184967.2:c.1173T>G NP_001171896.1:p.Asp391Glu
NM_001354604.2:c.1347T>G MANE Select NP_001341533.1:p.Asp449Glu
NM_001354605.2:c.1344T>G NP_001341534.1:p.Asp448Glu
NM_001354606.2:c.1326T>G NP_001341535.1:p.Asp442Glu
NM_001354607.2:c.1278T>G NP_001341536.1:p.Asp426Glu
NM_001354608.2:c.1173T>G NP_001341537.1:p.Asp391Glu
NM_198158.3:c.1008T>G NP_937801.1:p.Asp336Glu
NM_198159.3:c.1329T>G NP_937802.1:p.Asp443Glu
NM_198177.3:c.1281T>G NP_937820.1:p.Asp427Glu
NM_198178.3:c.840T>G NP_937821.2:p.Asp280Glu
NM_000248.4:c.1026T>G MANE Plus Clinical NP_000239.1:p.Asp342Glu
NM_006722.3:c.1326T>G NP_006713.1:p.Asp442Glu