Canonical Allele Identifier: CA354073861

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120360441G>T (hg19) ; chr3:g.120641594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641594G>T , CM000665.2:g.120641594G>T	GRCh38
NC_000003.11:g.120360441G>T , CM000665.1:g.120360441G>T	GRCh37
NC_000003.10:g.121843131G>T	NCBI36
NG_011957.1:g.45888C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.874C>A MANE Select	ENSP00000283871.5:p.His292Asn
ENST00000283871.9:c.874C>A	ENSP00000283871.5:p.His292Asn
ENST00000470321.1:n.214C>A
ENST00000475447.2:c.302C>A
ENST00000492108.5:c.280C>A	ENSP00000419838.1:p.His94Asn
ENST00000494453.1:c.294C>A
NM_000187.3:c.874C>A	NP_000178.2:p.His292Asn
XM_005247412.1:c.649C>A	XP_005247469.1:p.His217Asn
XM_005247413.1:c.874C>A	XP_005247470.1:p.His292Asn
XM_011512746.1:c.874C>A	XP_011511048.1:p.His292Asn
XM_005247412.2:c.649C>A	XP_005247469.1:p.His217Asn
XM_005247413.2:c.874C>A	XP_005247470.1:p.His292Asn
XM_011512746.2:c.874C>A	XP_011511048.1:p.His292Asn
XM_017006277.2:c.451C>A	XP_016861766.1:p.His151Asn
NM_000187.4:c.874C>A MANE Select	NP_000178.2:p.His292Asn