Canonical Allele Identifier: CA2560314

Gene: HGD

Linked Data

• ClinVar Variation Id: 3017544
• ClinVar RCV Id: RCV003874143
• dbSNP Id: rs750422652
• ExAC: 3:120389398 A / G
• gnomAD v2: 3-120389398-A-G
• gnomAD v3: 3-120670551-A-G
• gnomAD v4: 3-120670551-A-G
• MyVariant Identifiers: chr3:g.120389398A>G (hg19) ; chr3:g.120670551A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670551A>G , CM000665.2:g.120670551A>G	GRCh38
NC_000003.11:g.120389398A>G , CM000665.1:g.120389398A>G	GRCh37
NC_000003.10:g.121872088A>G	NCBI36
NG_011957.1:g.16931T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.177-19T>C MANE Select	ENSP00000283871.5:n.177-19T>C
ENST00000283871.9:c.177-19T>C	ENSP00000283871.5:n.177-19T>C
ENST00000466528.5:n.203-19T>C
ENST00000476082.2:c.54-19T>C	ENSP00000419560.2:n.54-19T>C
ENST00000485313.5:n.285-19T>C
ENST00000488183.5:n.435-19T>C
NM_000187.3:c.177-19T>C	NP_000178.2:n.177-19T>C
XM_005247412.1:c.177-19T>C	XP_005247469.1:n.177-19T>C
XM_005247413.1:c.177-19T>C	XP_005247470.1:n.177-19T>C
XM_005247414.3:c.177-19T>C	XP_005247471.1:n.177-19T>C
XM_011512746.1:c.177-19T>C	XP_011511048.1:n.177-19T>C
XM_005247412.2:c.177-19T>C	XP_005247469.1:n.177-19T>C
XM_005247413.2:c.177-19T>C	XP_005247470.1:n.177-19T>C
XM_005247414.5:c.177-19T>C	XP_005247471.1:n.177-19T>C
XM_011512746.2:c.177-19T>C	XP_011511048.1:n.177-19T>C
XM_017006277.2:c.-247-19T>C	XP_016861766.1:n.-247-19T>C
NM_000187.4:c.177-19T>C MANE Select	NP_000178.2:n.177-19T>C