Canonical Allele Identifier: CA353561887
Community Standard Title: NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69959280C>G , CM000665.2:g.69959280C>G GRCh38
NC_000003.11:g.70008431C>G , CM000665.1:g.70008431C>G GRCh37
NC_000003.10:g.70091121C>G NCBI36
NG_011631.1:g.224799C>G , LRG_776:g.224799C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.1039C>G MANE Select NP_001341533.1:p.Arg347Gly
ENST00000352241.9:c.1039C>G MANE Select ENSP00000295600.8:p.Arg347Gly
NM_000248.4:c.718C>G MANE Plus Clinical NP_000239.1:p.Arg240Gly
ENST00000394351.9:c.718C>G MANE Plus Clinical ENSP00000377880.3:p.Arg240Gly
NM_000248.3:c.718C>G , LRG_776t1:c.718C>G NP_000239.1:p.Arg240Gly
NM_001184967.1:c.865C>G NP_001171896.1:p.Arg289Gly
NM_001184967.2:c.865C>G NP_001171896.1:p.Arg289Gly
NM_001354604.1:c.1039C>G NP_001341533.1:p.Arg347Gly
NM_001354605.1:c.1036C>G NP_001341534.1:p.Arg346Gly
NM_001354605.2:c.1036C>G NP_001341534.1:p.Arg346Gly
NM_001354606.1:c.1018C>G NP_001341535.1:p.Arg340Gly
NM_001354606.2:c.1018C>G NP_001341535.1:p.Arg340Gly
NM_001354607.1:c.970C>G NP_001341536.1:p.Arg324Gly
NM_001354607.2:c.970C>G NP_001341536.1:p.Arg324Gly
NM_001354608.1:c.865C>G NP_001341537.1:p.Arg289Gly
NM_001354608.2:c.865C>G NP_001341537.1:p.Arg289Gly
NM_006722.2:c.1018C>G NP_006713.1:p.Arg340Gly
NM_006722.3:c.1018C>G NP_006713.1:p.Arg340Gly
NM_198158.2:c.700C>G NP_937801.1:p.Arg234Gly
NM_198158.3:c.700C>G NP_937801.1:p.Arg234Gly
NM_198159.2:c.1021C>G NP_937802.1:p.Arg341Gly
NM_198159.3:c.1021C>G NP_937802.1:p.Arg341Gly
NM_198177.2:c.973C>G NP_937820.1:p.Arg325Gly
NM_198177.3:c.973C>G NP_937820.1:p.Arg325Gly
NM_198178.2:c.532C>G NP_937821.2:p.Arg178Gly
NM_198178.3:c.532C>G NP_937821.2:p.Arg178Gly
ENST00000314557.10:c.700C>G ENSP00000324246.6:p.Arg234Gly
ENST00000314589.10:c.973C>G ENSP00000324443.5:p.Arg325Gly
ENST00000314589.11:c.973C>G ENSP00000324443.5:p.Arg325Gly
ENST00000314589.9:c.973C>G ENSP00000324443.5:p.Arg325Gly
ENST00000328528.10:c.1018C>G ENSP00000327867.6:p.Arg340Gly
ENST00000352241.8:c.1021C>G ENSP00000295600.7:p.Arg341Gly
ENST00000394351.7:c.718C>G ENSP00000377880.3:p.Arg240Gly
ENST00000448226.6:c.1039C>G ENSP00000391803.2:p.Arg347Gly
ENST00000448226.9:c.1018C>G ENSP00000391803.3:p.Arg340Gly
ENST00000451708.5:c.991C>G ENSP00000398639.1:p.Arg331Gly
ENST00000472437.5:c.865C>G ENSP00000418845.1:p.Arg289Gly
ENST00000478490.5:c.*365C>G ENSP00000433487.1:n.*365C>G
ENST00000531774.1:c.532C>G ENSP00000435909.1:p.Arg178Gly
ENST00000642352.1:c.1021C>G ENSP00000494105.1:p.Arg341Gly
ENST00000687384.1:c.970C>G ENSP00000510225.1:p.Arg324Gly
ENST00000689390.1:n.1195C>G
ENST00000693031.1:c.946C>G ENSP00000509845.1:p.Arg316Gly
ENST00000693549.1:c.973C>G ENSP00000509358.1:p.Arg325Gly
XM_005264754.1:c.1039C>G XP_005264811.1:p.Arg347Gly
XM_005264755.2:c.991C>G XP_005264812.1:p.Arg331Gly
XM_006713164.2:c.883C>G XP_006713227.1:p.Arg295Gly
XM_011533722.1:c.1036C>G XP_011532024.1:p.Arg346Gly
XM_011533723.1:c.988C>G XP_011532025.1:p.Arg330Gly
XM_011533724.1:c.883C>G XP_011532026.1:p.Arg295Gly
XM_011533725.1:c.871C>G XP_011532027.1:p.Arg291Gly
XM_011533726.1:c.853C>G XP_011532028.1:p.Arg285Gly