Canonical Allele Identifier: CA353559388
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964887T>G , CM000665.2:g.69964887T>G GRCh38
NC_000003.11:g.70014038T>G , CM000665.1:g.70014038T>G GRCh37
NC_000003.10:g.70096728T>G NCBI36
NG_011631.1:g.230406T>G , LRG_776:g.230406T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000314589.11:c.1154T>G ENSP00000324443.5:p.Ile385Ser
ENST00000687384.1:c.1151T>G ENSP00000510225.1:p.Ile384Ser
ENST00000689390.1:n.1376T>G
ENST00000693031.1:c.1127T>G ENSP00000509845.1:p.Ile376Ser
ENST00000693549.1:c.1114-27T>G ENSP00000509358.1:n.1114-27T>G
ENST00000314589.10:c.1154T>G ENSP00000324443.5:p.Ile385Ser
ENST00000352241.9:c.1220T>G MANE Select ENSP00000295600.8:p.Ile407Ser
ENST00000394351.9:c.899T>G MANE Plus Clinical ENSP00000377880.3:p.Ile300Ser
ENST00000448226.9:c.1199T>G ENSP00000391803.3:p.Ile400Ser
ENST00000642352.1:c.1202T>G ENSP00000494105.1:p.Ile401Ser
ENST00000314557.10:c.881T>G ENSP00000324246.6:p.Ile294Ser
ENST00000314589.9:c.1154T>G ENSP00000324443.5:p.Ile385Ser
ENST00000328528.10:c.1199T>G ENSP00000327867.6:p.Ile400Ser
ENST00000352241.8:c.1202T>G ENSP00000295600.7:p.Ile401Ser
ENST00000394351.7:c.899T>G ENSP00000377880.3:p.Ile300Ser
ENST00000448226.6:c.1220T>G ENSP00000391803.2:p.Ile407Ser
ENST00000472437.5:c.1046T>G ENSP00000418845.1:p.Ile349Ser
ENST00000478490.5:c.*546T>G ENSP00000433487.1:n.*546T>G
ENST00000531774.1:c.713T>G ENSP00000435909.1:p.Ile238Ser
NM_000248.3:c.899T>G , LRG_776t1:c.899T>G NP_000239.1:p.Ile300Ser
NM_001184967.1:c.1046T>G NP_001171896.1:p.Ile349Ser
NM_006722.2:c.1199T>G NP_006713.1:p.Ile400Ser
NM_198158.2:c.881T>G NP_937801.1:p.Ile294Ser
NM_198159.2:c.1202T>G NP_937802.1:p.Ile401Ser
NM_198177.2:c.1154T>G NP_937820.1:p.Ile385Ser
NM_198178.2:c.713T>G NP_937821.2:p.Ile238Ser
XM_005264754.1:c.1220T>G XP_005264811.1:p.Ile407Ser
XM_005264755.2:c.1172T>G XP_005264812.1:p.Ile391Ser
XM_006713164.2:c.1064T>G XP_006713227.1:p.Ile355Ser
XM_011533722.1:c.1217T>G XP_011532024.1:p.Ile406Ser
XM_011533723.1:c.1169T>G XP_011532025.1:p.Ile390Ser
XM_011533724.1:c.1064T>G XP_011532026.1:p.Ile355Ser
XM_011533725.1:c.1052T>G XP_011532027.1:p.Ile351Ser
XM_011533726.1:c.1034T>G XP_011532028.1:p.Ile345Ser
NM_001354604.1:c.1220T>G NP_001341533.1:p.Ile407Ser
NM_001354605.1:c.1217T>G NP_001341534.1:p.Ile406Ser
NM_001354606.1:c.1199T>G NP_001341535.1:p.Ile400Ser
NM_001354607.1:c.1151T>G NP_001341536.1:p.Ile384Ser
NM_001354608.1:c.1046T>G NP_001341537.1:p.Ile349Ser
NM_001184967.2:c.1046T>G NP_001171896.1:p.Ile349Ser
NM_001354604.2:c.1220T>G MANE Select NP_001341533.1:p.Ile407Ser
NM_001354605.2:c.1217T>G NP_001341534.1:p.Ile406Ser
NM_001354606.2:c.1199T>G NP_001341535.1:p.Ile400Ser
NM_001354607.2:c.1151T>G NP_001341536.1:p.Ile384Ser
NM_001354608.2:c.1046T>G NP_001341537.1:p.Ile349Ser
NM_198158.3:c.881T>G NP_937801.1:p.Ile294Ser
NM_198159.3:c.1202T>G NP_937802.1:p.Ile401Ser
NM_198177.3:c.1154T>G NP_937820.1:p.Ile385Ser
NM_198178.3:c.713T>G NP_937821.2:p.Ile238Ser
NM_000248.4:c.899T>G MANE Plus Clinical NP_000239.1:p.Ile300Ser
NM_006722.3:c.1199T>G NP_006713.1:p.Ile400Ser