Canonical Allele Identifier: CA353561554
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951833C>T , CM000665.2:g.69951833C>T GRCh38
NC_000003.11:g.70000984C>T , CM000665.1:g.70000984C>T GRCh37
NC_000003.10:g.70083674C>T NCBI36
NG_011631.1:g.217352C>T , LRG_776:g.217352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.836C>T ENSP00000324443.5:p.Ser279Phe
ENST00000687384.1:c.833C>T ENSP00000510225.1:p.Ser278Phe
ENST00000689390.1:n.1058C>T
ENST00000693031.1:c.809C>T ENSP00000509845.1:p.Ser270Phe
ENST00000693549.1:c.836C>T ENSP00000509358.1:p.Ser279Phe
ENST00000314589.10:c.836C>T ENSP00000324443.5:p.Ser279Phe
ENST00000352241.9:c.902C>T MANE Select ENSP00000295600.8:p.Ser301Phe
ENST00000394351.9:c.581C>T MANE Plus Clinical ENSP00000377880.3:p.Ser194Phe
ENST00000448226.9:c.881C>T ENSP00000391803.3:p.Ser294Phe
ENST00000642352.1:c.884C>T ENSP00000494105.1:p.Ser295Phe
ENST00000314557.10:c.563C>T ENSP00000324246.6:p.Ser188Phe
ENST00000314589.9:c.836C>T ENSP00000324443.5:p.Ser279Phe
ENST00000328528.10:c.881C>T ENSP00000327867.6:p.Ser294Phe
ENST00000352241.8:c.884C>T ENSP00000295600.7:p.Ser295Phe
ENST00000394351.7:c.581C>T ENSP00000377880.3:p.Ser194Phe
ENST00000448226.6:c.902C>T ENSP00000391803.2:p.Ser301Phe
ENST00000451708.5:c.854C>T ENSP00000398639.1:p.Ser285Phe
ENST00000472437.5:c.728C>T ENSP00000418845.1:p.Ser243Phe
ENST00000478490.5:c.*228C>T ENSP00000433487.1:n.*228C>T
ENST00000531774.1:c.395C>T ENSP00000435909.1:p.Ser132Phe
NM_000248.3:c.581C>T , LRG_776t1:c.581C>T NP_000239.1:p.Ser194Phe
NM_001184967.1:c.728C>T NP_001171896.1:p.Ser243Phe
NM_006722.2:c.881C>T NP_006713.1:p.Ser294Phe
NM_198158.2:c.563C>T NP_937801.1:p.Ser188Phe
NM_198159.2:c.884C>T NP_937802.1:p.Ser295Phe
NM_198177.2:c.836C>T NP_937820.1:p.Ser279Phe
NM_198178.2:c.395C>T NP_937821.2:p.Ser132Phe
XM_005264754.1:c.902C>T XP_005264811.1:p.Ser301Phe
XM_005264755.2:c.854C>T XP_005264812.1:p.Ser285Phe
XM_006713164.2:c.746C>T XP_006713227.1:p.Ser249Phe
XM_011533722.1:c.899C>T XP_011532024.1:p.Ser300Phe
XM_011533723.1:c.851C>T XP_011532025.1:p.Ser284Phe
XM_011533724.1:c.746C>T XP_011532026.1:p.Ser249Phe
XM_011533725.1:c.734C>T XP_011532027.1:p.Ser245Phe
XM_011533726.1:c.716C>T XP_011532028.1:p.Ser239Phe
NM_001354604.1:c.902C>T NP_001341533.1:p.Ser301Phe
NM_001354605.1:c.899C>T NP_001341534.1:p.Ser300Phe
NM_001354606.1:c.881C>T NP_001341535.1:p.Ser294Phe
NM_001354607.1:c.833C>T NP_001341536.1:p.Ser278Phe
NM_001354608.1:c.728C>T NP_001341537.1:p.Ser243Phe
NM_001184967.2:c.728C>T NP_001171896.1:p.Ser243Phe
NM_001354604.2:c.902C>T MANE Select NP_001341533.1:p.Ser301Phe
NM_001354605.2:c.899C>T NP_001341534.1:p.Ser300Phe
NM_001354606.2:c.881C>T NP_001341535.1:p.Ser294Phe
NM_001354607.2:c.833C>T NP_001341536.1:p.Ser278Phe
NM_001354608.2:c.728C>T NP_001341537.1:p.Ser243Phe
NM_198158.3:c.563C>T NP_937801.1:p.Ser188Phe
NM_198159.3:c.884C>T NP_937802.1:p.Ser295Phe
NM_198177.3:c.836C>T NP_937820.1:p.Ser279Phe
NM_198178.3:c.395C>T NP_937821.2:p.Ser132Phe
NM_000248.4:c.581C>T MANE Plus Clinical NP_000239.1:p.Ser194Phe
NM_006722.3:c.881C>T NP_006713.1:p.Ser294Phe