Canonical Allele Identifier: CA2560071

Gene: HGD

Linked Data

• dbSNP Id: rs191581718
• ExAC: 3:120360591 G / C
• gnomAD v3: 3-120641744-G-C
• gnomAD v4: 3-120641744-G-C
• MyVariant Identifiers: chr3:g.120360591G>C (hg19) ; chr3:g.120641744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641744G>C , CM000665.2:g.120641744G>C	GRCh38
NC_000003.11:g.120360591G>C , CM000665.1:g.120360591G>C	GRCh37
NC_000003.10:g.121843281G>C	NCBI36
NG_011957.1:g.45738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.775-51C>G MANE Select	ENSP00000283871.5:n.775-51C>G
ENST00000283871.9:c.775-51C>G	ENSP00000283871.5:n.775-51C>G
ENST00000470321.1:n.64C>G
ENST00000475447.2:c.203-51C>G
ENST00000492108.5:c.181-51C>G	ENSP00000419838.1:n.181-51C>G
ENST00000494453.1:c.195-51C>G
NM_000187.3:c.775-51C>G	NP_000178.2:n.775-51C>G
XM_005247412.1:c.550-51C>G	XP_005247469.1:n.550-51C>G
XM_005247413.1:c.775-51C>G	XP_005247470.1:n.775-51C>G
XM_011512746.1:c.775-51C>G	XP_011511048.1:n.775-51C>G
XM_005247412.2:c.550-51C>G	XP_005247469.1:n.550-51C>G
XM_005247413.2:c.775-51C>G	XP_005247470.1:n.775-51C>G
XM_011512746.2:c.775-51C>G	XP_011511048.1:n.775-51C>G
XM_017006277.2:c.352-51C>G	XP_016861766.1:n.352-51C>G
NM_000187.4:c.775-51C>G MANE Select	NP_000178.2:n.775-51C>G