Canonical Allele Identifier: CA353559687
Gene: MITF HGNC NCBI

Linked Data

gnomAD v4: 3-69965030-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965030A>G , CM000665.2:g.69965030A>G GRCh38
NC_000003.11:g.70014181A>G , CM000665.1:g.70014181A>G GRCh37
NC_000003.10:g.70096871A>G NCBI36
NG_011631.1:g.230549A>G , LRG_776:g.230549A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1297A>G ENSP00000324443.5:p.Ile433Val
ENST00000687384.1:c.1294A>G ENSP00000510225.1:p.Ile432Val
ENST00000689390.1:n.1519A>G
ENST00000693031.1:c.1270A>G ENSP00000509845.1:p.Ile424Val
ENST00000693549.1:c.*108A>G ENSP00000509358.1:n.*108A>G
ENST00000314589.10:c.1297A>G ENSP00000324443.5:p.Ile433Val
ENST00000352241.9:c.1363A>G MANE Select ENSP00000295600.8:p.Ile455Val
ENST00000394351.9:c.1042A>G MANE Plus Clinical ENSP00000377880.3:p.Ile348Val
ENST00000448226.9:c.1342A>G ENSP00000391803.3:p.Ile448Val
ENST00000642352.1:c.1345A>G ENSP00000494105.1:p.Ile449Val
ENST00000314557.10:c.1024A>G ENSP00000324246.6:p.Ile342Val
ENST00000314589.9:c.1297A>G ENSP00000324443.5:p.Ile433Val
ENST00000328528.10:c.1342A>G ENSP00000327867.6:p.Ile448Val
ENST00000352241.8:c.1345A>G ENSP00000295600.7:p.Ile449Val
ENST00000394351.7:c.1042A>G ENSP00000377880.3:p.Ile348Val
ENST00000448226.6:c.1363A>G ENSP00000391803.2:p.Ile455Val
ENST00000472437.5:c.1189A>G ENSP00000418845.1:p.Ile397Val
ENST00000478490.5:c.*689A>G ENSP00000433487.1:n.*689A>G
ENST00000531774.1:c.856A>G ENSP00000435909.1:p.Ile286Val
NM_000248.3:c.1042A>G , LRG_776t1:c.1042A>G NP_000239.1:p.Ile348Val
NM_001184967.1:c.1189A>G NP_001171896.1:p.Ile397Val
NM_006722.2:c.1342A>G NP_006713.1:p.Ile448Val
NM_198158.2:c.1024A>G NP_937801.1:p.Ile342Val
NM_198159.2:c.1345A>G NP_937802.1:p.Ile449Val
NM_198177.2:c.1297A>G NP_937820.1:p.Ile433Val
NM_198178.2:c.856A>G NP_937821.2:p.Ile286Val
XM_005264754.1:c.1363A>G XP_005264811.1:p.Ile455Val
XM_005264755.2:c.1315A>G XP_005264812.1:p.Ile439Val
XM_006713164.2:c.1207A>G XP_006713227.1:p.Ile403Val
XM_011533722.1:c.1360A>G XP_011532024.1:p.Ile454Val
XM_011533723.1:c.1312A>G XP_011532025.1:p.Ile438Val
XM_011533724.1:c.1207A>G XP_011532026.1:p.Ile403Val
XM_011533725.1:c.1195A>G XP_011532027.1:p.Ile399Val
XM_011533726.1:c.1177A>G XP_011532028.1:p.Ile393Val
NM_001354604.1:c.1363A>G NP_001341533.1:p.Ile455Val
NM_001354605.1:c.1360A>G NP_001341534.1:p.Ile454Val
NM_001354606.1:c.1342A>G NP_001341535.1:p.Ile448Val
NM_001354607.1:c.1294A>G NP_001341536.1:p.Ile432Val
NM_001354608.1:c.1189A>G NP_001341537.1:p.Ile397Val
NM_001184967.2:c.1189A>G NP_001171896.1:p.Ile397Val
NM_001354604.2:c.1363A>G MANE Select NP_001341533.1:p.Ile455Val
NM_001354605.2:c.1360A>G NP_001341534.1:p.Ile454Val
NM_001354606.2:c.1342A>G NP_001341535.1:p.Ile448Val
NM_001354607.2:c.1294A>G NP_001341536.1:p.Ile432Val
NM_001354608.2:c.1189A>G NP_001341537.1:p.Ile397Val
NM_198158.3:c.1024A>G NP_937801.1:p.Ile342Val
NM_198159.3:c.1345A>G NP_937802.1:p.Ile449Val
NM_198177.3:c.1297A>G NP_937820.1:p.Ile433Val
NM_198178.3:c.856A>G NP_937821.2:p.Ile286Val
NM_000248.4:c.1042A>G MANE Plus Clinical NP_000239.1:p.Ile348Val
NM_006722.3:c.1342A>G NP_006713.1:p.Ile448Val