Canonical Allele Identifier: CA354073936

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120360474T>G (hg19) ; chr3:g.120641627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641627T>G , CM000665.2:g.120641627T>G	GRCh38
NC_000003.11:g.120360474T>G , CM000665.1:g.120360474T>G	GRCh37
NC_000003.10:g.121843164T>G	NCBI36
NG_011957.1:g.45855A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.841A>C MANE Select	ENSP00000283871.5:p.Asn281His
ENST00000283871.9:c.841A>C	ENSP00000283871.5:p.Asn281His
ENST00000470321.1:n.181A>C
ENST00000475447.2:c.269A>C
ENST00000492108.5:c.247A>C	ENSP00000419838.1:p.Asn83His
ENST00000494453.1:c.261A>C
NM_000187.3:c.841A>C	NP_000178.2:p.Asn281His
XM_005247412.1:c.616A>C	XP_005247469.1:p.Asn206His
XM_005247413.1:c.841A>C	XP_005247470.1:p.Asn281His
XM_011512746.1:c.841A>C	XP_011511048.1:p.Asn281His
XM_005247412.2:c.616A>C	XP_005247469.1:p.Asn206His
XM_005247413.2:c.841A>C	XP_005247470.1:p.Asn281His
XM_011512746.2:c.841A>C	XP_011511048.1:p.Asn281His
XM_017006277.2:c.418A>C	XP_016861766.1:p.Asn140His
NM_000187.4:c.841A>C MANE Select	NP_000178.2:p.Asn281His