Canonical Allele Identifier: CA353559918
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965138T>G , CM000665.2:g.69965138T>G GRCh38
NC_000003.11:g.70014289T>G , CM000665.1:g.70014289T>G GRCh37
NC_000003.10:g.70096979T>G NCBI36
NG_011631.1:g.230657T>G , LRG_776:g.230657T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1405T>G ENSP00000324443.5:p.Ser469Ala
ENST00000687384.1:c.1402T>G ENSP00000510225.1:p.Ser468Ala
ENST00000689390.1:n.1627T>G
ENST00000693031.1:c.1378T>G ENSP00000509845.1:p.Ser460Ala
ENST00000693549.1:c.*216T>G ENSP00000509358.1:n.*216T>G
ENST00000314589.10:c.1405T>G ENSP00000324443.5:p.Ser469Ala
ENST00000352241.9:c.1471T>G MANE Select ENSP00000295600.8:p.Ser491Ala
ENST00000394351.9:c.1150T>G MANE Plus Clinical ENSP00000377880.3:p.Ser384Ala
ENST00000448226.9:c.1450T>G ENSP00000391803.3:p.Ser484Ala
ENST00000642352.1:c.1453T>G ENSP00000494105.1:p.Ser485Ala
ENST00000314557.10:c.1132T>G ENSP00000324246.6:p.Ser378Ala
ENST00000314589.9:c.1405T>G ENSP00000324443.5:p.Ser469Ala
ENST00000328528.10:c.1450T>G ENSP00000327867.6:p.Ser484Ala
ENST00000352241.8:c.1453T>G ENSP00000295600.7:p.Ser485Ala
ENST00000394351.7:c.1150T>G ENSP00000377880.3:p.Ser384Ala
ENST00000448226.6:c.1471T>G ENSP00000391803.2:p.Ser491Ala
ENST00000472437.5:c.1297T>G ENSP00000418845.1:p.Ser433Ala
ENST00000478490.5:c.*797T>G ENSP00000433487.1:n.*797T>G
ENST00000531774.1:c.964T>G ENSP00000435909.1:p.Ser322Ala
NM_000248.3:c.1150T>G , LRG_776t1:c.1150T>G NP_000239.1:p.Ser384Ala
NM_001184967.1:c.1297T>G NP_001171896.1:p.Ser433Ala
NM_006722.2:c.1450T>G NP_006713.1:p.Ser484Ala
NM_198158.2:c.1132T>G NP_937801.1:p.Ser378Ala
NM_198159.2:c.1453T>G NP_937802.1:p.Ser485Ala
NM_198177.2:c.1405T>G NP_937820.1:p.Ser469Ala
NM_198178.2:c.964T>G NP_937821.2:p.Ser322Ala
XM_005264754.1:c.1471T>G XP_005264811.1:p.Ser491Ala
XM_005264755.2:c.1423T>G XP_005264812.1:p.Ser475Ala
XM_006713164.2:c.1315T>G XP_006713227.1:p.Ser439Ala
XM_011533722.1:c.1468T>G XP_011532024.1:p.Ser490Ala
XM_011533723.1:c.1420T>G XP_011532025.1:p.Ser474Ala
XM_011533724.1:c.1315T>G XP_011532026.1:p.Ser439Ala
XM_011533725.1:c.1303T>G XP_011532027.1:p.Ser435Ala
XM_011533726.1:c.1285T>G XP_011532028.1:p.Ser429Ala
NM_001354604.1:c.1471T>G NP_001341533.1:p.Ser491Ala
NM_001354605.1:c.1468T>G NP_001341534.1:p.Ser490Ala
NM_001354606.1:c.1450T>G NP_001341535.1:p.Ser484Ala
NM_001354607.1:c.1402T>G NP_001341536.1:p.Ser468Ala
NM_001354608.1:c.1297T>G NP_001341537.1:p.Ser433Ala
NM_001184967.2:c.1297T>G NP_001171896.1:p.Ser433Ala
NM_001354604.2:c.1471T>G MANE Select NP_001341533.1:p.Ser491Ala
NM_001354605.2:c.1468T>G NP_001341534.1:p.Ser490Ala
NM_001354606.2:c.1450T>G NP_001341535.1:p.Ser484Ala
NM_001354607.2:c.1402T>G NP_001341536.1:p.Ser468Ala
NM_001354608.2:c.1297T>G NP_001341537.1:p.Ser433Ala
NM_198158.3:c.1132T>G NP_937801.1:p.Ser378Ala
NM_198159.3:c.1453T>G NP_937802.1:p.Ser485Ala
NM_198177.3:c.1405T>G NP_937820.1:p.Ser469Ala
NM_198178.3:c.964T>G NP_937821.2:p.Ser322Ala
NM_000248.4:c.1150T>G MANE Plus Clinical NP_000239.1:p.Ser384Ala
NM_006722.3:c.1450T>G NP_006713.1:p.Ser484Ala