Canonical Allele Identifier: CA354072707

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120352022G>C (hg19) ; chr3:g.120633175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633175G>C , CM000665.2:g.120633175G>C	GRCh38
NC_000003.11:g.120352022G>C , CM000665.1:g.120352022G>C	GRCh37
NC_000003.10:g.121834712G>C	NCBI36
NG_011957.1:g.54307C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1160C>G MANE Select	ENSP00000283871.5:p.Ala387Gly
ENST00000283871.9:c.1160C>G	ENSP00000283871.5:p.Ala387Gly
ENST00000470321.1:n.500C>G
ENST00000492108.5:c.439C>G	ENSP00000419838.1:n.439C>G
NM_000187.3:c.1160C>G	NP_000178.2:p.Ala387Gly
XM_005247412.1:c.935C>G	XP_005247469.1:p.Ala312Gly
XM_005247412.2:c.935C>G	XP_005247469.1:p.Ala312Gly
XM_017006277.2:c.737C>G	XP_016861766.1:p.Ala246Gly
NM_000187.4:c.1160C>G MANE Select	NP_000178.2:p.Ala387Gly