Canonical Allele Identifier: CA435227571

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120360448G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641601G>C , CM000665.2:g.120641601G>C	GRCh38
NC_000003.11:g.120360448G>C , CM000665.1:g.120360448G>C	GRCh37
NC_000003.10:g.121843138G>C	NCBI36
NG_011957.1:g.45881C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.867C>G MANE Select	ENSP00000283871.5:p.Ala289=
ENST00000283871.9:c.867C>G	ENSP00000283871.5:p.Ala289=
ENST00000470321.1:n.207C>G
ENST00000475447.2:c.295C>G
ENST00000492108.5:c.273C>G	ENSP00000419838.1:p.Ala91=
ENST00000494453.1:c.287C>G
NM_000187.3:c.867C>G	NP_000178.2:p.Ala289=
XM_005247412.1:c.642C>G	XP_005247469.1:p.Ala214=
XM_005247413.1:c.867C>G	XP_005247470.1:p.Ala289=
XM_011512746.1:c.867C>G	XP_011511048.1:p.Ala289=
XM_005247412.2:c.642C>G	XP_005247469.1:p.Ala214=
XM_005247413.2:c.867C>G	XP_005247470.1:p.Ala289=
XM_011512746.2:c.867C>G	XP_011511048.1:p.Ala289=
XM_017006277.2:c.444C>G	XP_016861766.1:p.Ala148=
NM_000187.4:c.867C>G MANE Select	NP_000178.2:p.Ala289=