Canonical Allele Identifier: CA435226174
Gene: HGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.120352132A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633285A>G , CM000665.2:g.120633285A>G GRCh38
NC_000003.11:g.120352132A>G , CM000665.1:g.120352132A>G GRCh37
NC_000003.10:g.121834822A>G NCBI36
NG_011957.1:g.54197T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1050T>C MANE Select ENSP00000283871.5:p.Tyr350=
ENST00000283871.9:c.1050T>C ENSP00000283871.5:p.Tyr350=
ENST00000470321.1:n.390T>C
ENST00000492108.5:c.329T>C ENSP00000419838.1:n.329T>C
NM_000187.3:c.1050T>C NP_000178.2:p.Tyr350=
XM_005247412.1:c.825T>C XP_005247469.1:p.Tyr275=
XM_005247412.2:c.825T>C XP_005247469.1:p.Tyr275=
XM_017006277.2:c.627T>C XP_016861766.1:p.Tyr209=
NM_000187.4:c.1050T>C MANE Select NP_000178.2:p.Tyr350=
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