Canonical Allele Identifier: CA2560311

Gene: HGD

Linked Data

• ClinVar Variation Id: 2716261
• ClinVar RCV Id: RCV003501398
• dbSNP Id: rs374040969
• ExAC: 3:120389395 T / C
• gnomAD v2: 3-120389395-T-C
• gnomAD v3: 3-120670548-T-C
• gnomAD v4: 3-120670548-T-C
• MyVariant Identifiers: chr3:g.120389395T>C (hg19) ; chr3:g.120670548T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670548T>C , CM000665.2:g.120670548T>C	GRCh38
NC_000003.11:g.120389395T>C , CM000665.1:g.120389395T>C	GRCh37
NC_000003.10:g.121872085T>C	NCBI36
NG_011957.1:g.16934A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.177-16A>G MANE Select	ENSP00000283871.5:n.177-16A>G
ENST00000283871.9:c.177-16A>G	ENSP00000283871.5:n.177-16A>G
ENST00000466528.5:n.203-16A>G
ENST00000476082.2:c.54-16A>G	ENSP00000419560.2:n.54-16A>G
ENST00000485313.5:n.285-16A>G
ENST00000488183.5:n.435-16A>G
NM_000187.3:c.177-16A>G	NP_000178.2:n.177-16A>G
XM_005247412.1:c.177-16A>G	XP_005247469.1:n.177-16A>G
XM_005247413.1:c.177-16A>G	XP_005247470.1:n.177-16A>G
XM_005247414.3:c.177-16A>G	XP_005247471.1:n.177-16A>G
XM_011512746.1:c.177-16A>G	XP_011511048.1:n.177-16A>G
XM_005247412.2:c.177-16A>G	XP_005247469.1:n.177-16A>G
XM_005247413.2:c.177-16A>G	XP_005247470.1:n.177-16A>G
XM_005247414.5:c.177-16A>G	XP_005247471.1:n.177-16A>G
XM_011512746.2:c.177-16A>G	XP_011511048.1:n.177-16A>G
XM_017006277.2:c.-247-16A>G	XP_016861766.1:n.-247-16A>G
NM_000187.4:c.177-16A>G MANE Select	NP_000178.2:n.177-16A>G