Canonical Allele Identifier: CA81810308

Gene: HGD

Linked Data

• dbSNP Id: rs929489599
• gnomAD v2: 3-120393789-T-C
• gnomAD v3: 3-120674942-T-C
• gnomAD v4: 3-120674942-T-C
• MyVariant Identifiers: chr3:g.120393789T>C (hg19) ; chr3:g.120674942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674942T>C , CM000665.2:g.120674942T>C	GRCh38
NC_000003.11:g.120393789T>C , CM000665.1:g.120393789T>C	GRCh37
NC_000003.10:g.121876479T>C	NCBI36
NG_011957.1:g.12540A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.135A>G MANE Select	ENSP00000283871.5:p.Ser45=
ENST00000283871.9:c.135A>G	ENSP00000283871.5:p.Ser45=
ENST00000466528.5:n.161A>G
ENST00000476082.2:c.53+850A>G	ENSP00000419560.2:n.53+850A>G
ENST00000480862.1:n.293A>G
ENST00000485313.5:n.243A>G
ENST00000488183.5:n.393A>G
NM_000187.3:c.135A>G	NP_000178.2:p.Ser45=
XM_005247412.1:c.135A>G	XP_005247469.1:p.Ser45=
XM_005247413.1:c.135A>G	XP_005247470.1:p.Ser45=
XM_005247414.3:c.135A>G	XP_005247471.1:p.Ser45=
XM_011512746.1:c.135A>G	XP_011511048.1:p.Ser45=
XM_005247412.2:c.135A>G	XP_005247469.1:p.Ser45=
XM_005247413.2:c.135A>G	XP_005247470.1:p.Ser45=
XM_005247414.5:c.135A>G	XP_005247471.1:p.Ser45=
XM_011512746.2:c.135A>G	XP_011511048.1:p.Ser45=
XM_017006277.2:c.-289A>G	XP_016861766.1:n.-289A>G
NM_000187.4:c.135A>G MANE Select	NP_000178.2:p.Ser45=