Canonical Allele Identifier: CA354072942

Gene: HGD

Linked Data

• gnomAD v4: 3-120633285-A-C
• MyVariant Identifiers: chr3:g.120352132A>C (hg19) ; chr3:g.120633285A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1050T>G MANE Select	ENSP00000283871.5:p.Tyr350Ter
ENST00000283871.9:c.1050T>G	ENSP00000283871.5:p.Tyr350Ter
ENST00000470321.1:n.390T>G
ENST00000492108.5:c.329T>G	ENSP00000419838.1:n.329T>G
NM_000187.3:c.1050T>G	NP_000178.2:p.Tyr350Ter
XM_005247412.1:c.825T>G	XP_005247469.1:p.Tyr275Ter
XM_005247412.2:c.825T>G	XP_005247469.1:p.Tyr275Ter
XM_017006277.2:c.627T>G	XP_016861766.1:p.Tyr209Ter
NM_000187.4:c.1050T>G MANE Select	NP_000178.2:p.Tyr350Ter