Canonical Allele Identifier: CA81784162

Gene: HGD

Linked Data

• dbSNP Id: rs368520500
• gnomAD v2: 3-120360652-C-T
• gnomAD v3: 3-120641805-C-T
• gnomAD v4: 3-120641805-C-T
• MyVariant Identifiers: chr3:g.120360652C>T (hg19) ; chr3:g.120641805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641805C>T , CM000665.2:g.120641805C>T	GRCh38
NC_000003.11:g.120360652C>T , CM000665.1:g.120360652C>T	GRCh37
NC_000003.10:g.121843342C>T	NCBI36
NG_011957.1:g.45677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.775-112G>A MANE Select	ENSP00000283871.5:n.775-112G>A
ENST00000283871.9:c.775-112G>A	ENSP00000283871.5:n.775-112G>A
ENST00000470321.1:n.3G>A
ENST00000475447.2:c.203-112G>A
ENST00000492108.5:c.181-112G>A	ENSP00000419838.1:n.181-112G>A
ENST00000494453.1:c.195-112G>A
NM_000187.3:c.775-112G>A	NP_000178.2:n.775-112G>A
XM_005247412.1:c.550-112G>A	XP_005247469.1:n.550-112G>A
XM_005247413.1:c.775-112G>A	XP_005247470.1:n.775-112G>A
XM_011512746.1:c.775-112G>A	XP_011511048.1:n.775-112G>A
XM_005247412.2:c.550-112G>A	XP_005247469.1:n.550-112G>A
XM_005247413.2:c.775-112G>A	XP_005247470.1:n.775-112G>A
XM_011512746.2:c.775-112G>A	XP_011511048.1:n.775-112G>A
XM_017006277.2:c.352-112G>A	XP_016861766.1:n.352-112G>A
NM_000187.4:c.775-112G>A MANE Select	NP_000178.2:n.775-112G>A