Canonical Allele Identifier: CA354082056

Gene: HGD

Linked Data

• dbSNP Id: rs1370923534
• gnomAD v2: 3-120393791-A-G
• gnomAD v3: 3-120674944-A-G
• gnomAD v4: 3-120674944-A-G
• MyVariant Identifiers: chr3:g.120393791A>G (hg19) ; chr3:g.120674944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674944A>G , CM000665.2:g.120674944A>G	GRCh38
NC_000003.11:g.120393791A>G , CM000665.1:g.120393791A>G	GRCh37
NC_000003.10:g.121876481A>G	NCBI36
NG_011957.1:g.12538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.133T>C MANE Select	ENSP00000283871.5:p.Ser45Pro
ENST00000283871.9:c.133T>C	ENSP00000283871.5:p.Ser45Pro
ENST00000466528.5:n.159T>C
ENST00000476082.2:c.53+848T>C	ENSP00000419560.2:n.53+848T>C
ENST00000480862.1:n.291T>C
ENST00000485313.5:n.241T>C
ENST00000488183.5:n.391T>C
NM_000187.3:c.133T>C	NP_000178.2:p.Ser45Pro
XM_005247412.1:c.133T>C	XP_005247469.1:p.Ser45Pro
XM_005247413.1:c.133T>C	XP_005247470.1:p.Ser45Pro
XM_005247414.3:c.133T>C	XP_005247471.1:p.Ser45Pro
XM_011512746.1:c.133T>C	XP_011511048.1:p.Ser45Pro
XM_005247412.2:c.133T>C	XP_005247469.1:p.Ser45Pro
XM_005247413.2:c.133T>C	XP_005247470.1:p.Ser45Pro
XM_005247414.5:c.133T>C	XP_005247471.1:p.Ser45Pro
XM_011512746.2:c.133T>C	XP_011511048.1:p.Ser45Pro
XM_017006277.2:c.-291T>C	XP_016861766.1:n.-291T>C
NM_000187.4:c.133T>C MANE Select	NP_000178.2:p.Ser45Pro