Canonical Allele Identifier: CA435225739
Gene: HGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.120352024C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633177C>T , CM000665.2:g.120633177C>T GRCh38
NC_000003.11:g.120352024C>T , CM000665.1:g.120352024C>T GRCh37
NC_000003.10:g.121834714C>T NCBI36
NG_011957.1:g.54305G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1158G>A MANE Select ENSP00000283871.5:p.Leu386=
ENST00000283871.9:c.1158G>A ENSP00000283871.5:p.Leu386=
ENST00000470321.1:n.498G>A
ENST00000492108.5:c.437G>A ENSP00000419838.1:n.437G>A
NM_000187.3:c.1158G>A NP_000178.2:p.Leu386=
XM_005247412.1:c.933G>A XP_005247469.1:p.Leu311=
XM_005247412.2:c.933G>A XP_005247469.1:p.Leu311=
XM_017006277.2:c.735G>A XP_016861766.1:p.Leu245=
NM_000187.4:c.1158G>A MANE Select NP_000178.2:p.Leu386=
Search 100 bp 5'
Search 100 bp 3'