Canonical Allele Identifier: CA354073356

Gene: HGD

Linked Data

• ClinVar Variation Id: 2627728
• ClinVar RCV Id: RCV003389022
• MyVariant Identifiers: chr3:g.120357322A>C (hg19) ; chr3:g.120638475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638475A>C , CM000665.2:g.120638475A>C	GRCh38
NC_000003.11:g.120357322A>C , CM000665.1:g.120357322A>C	GRCh37
NC_000003.10:g.121840012A>C	NCBI36
NG_011957.1:g.49007T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.986T>G MANE Select	ENSP00000283871.5:p.Phe329Cys
ENST00000283871.9:c.986T>G	ENSP00000283871.5:p.Phe329Cys
ENST00000470321.1:n.326T>G
ENST00000475447.2:c.307+3114T>G
ENST00000492108.5:c.285+3114T>G	ENSP00000419838.1:n.285+3114T>G
ENST00000494453.1:c.406T>G
NM_000187.3:c.986T>G	NP_000178.2:p.Phe329Cys
XM_005247412.1:c.761T>G	XP_005247469.1:p.Phe254Cys
XM_005247413.1:c.986T>G	XP_005247470.1:p.Phe329Cys
XM_011512746.1:c.879+3114T>G	XP_011511048.1:n.879+3114T>G
XM_005247412.2:c.761T>G	XP_005247469.1:p.Phe254Cys
XM_005247413.2:c.986T>G	XP_005247470.1:p.Phe329Cys
XM_011512746.2:c.879+3114T>G	XP_011511048.1:n.879+3114T>G
XM_017006277.2:c.563T>G	XP_016861766.1:p.Phe188Cys
NM_000187.4:c.986T>G MANE Select	NP_000178.2:p.Phe329Cys