Canonical Allele Identifier: CA435226141
Gene: HGD HGNC NCBI

Linked Data

COSMIC: COSM3585838
MyVariant Identifiers: chr3:g.120352123C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633276C>T , CM000665.2:g.120633276C>T GRCh38
NC_000003.11:g.120352123C>T , CM000665.1:g.120352123C>T GRCh37
NC_000003.10:g.121834813C>T NCBI36
NG_011957.1:g.54206G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1059G>A MANE Select ENSP00000283871.5:p.Lys353=
ENST00000283871.9:c.1059G>A ENSP00000283871.5:p.Lys353=
ENST00000470321.1:n.399G>A
ENST00000492108.5:c.338G>A ENSP00000419838.1:n.338G>A
NM_000187.3:c.1059G>A NP_000178.2:p.Lys353=
XM_005247412.1:c.834G>A XP_005247469.1:p.Lys278=
XM_005247412.2:c.834G>A XP_005247469.1:p.Lys278=
XM_017006277.2:c.636G>A XP_016861766.1:p.Lys212=
NM_000187.4:c.1059G>A MANE Select NP_000178.2:p.Lys353=
Search 100 bp 5'
Search 100 bp 3'