Canonical Allele Identifier: CA354072723

Gene: HGD

Linked Data

• dbSNP Id: rs2107489284
• MyVariant Identifiers: chr3:g.120352031A>G (hg19) ; chr3:g.120633184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633184A>G , CM000665.2:g.120633184A>G	GRCh38
NC_000003.11:g.120352031A>G , CM000665.1:g.120352031A>G	GRCh37
NC_000003.10:g.121834721A>G	NCBI36
NG_011957.1:g.54298T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1151T>C MANE Select	ENSP00000283871.5:p.Val384Ala
ENST00000283871.9:c.1151T>C	ENSP00000283871.5:p.Val384Ala
ENST00000470321.1:n.491T>C
ENST00000492108.5:c.430T>C	ENSP00000419838.1:n.430T>C
NM_000187.3:c.1151T>C	NP_000178.2:p.Val384Ala
XM_005247412.1:c.926T>C	XP_005247469.1:p.Val309Ala
XM_005247412.2:c.926T>C	XP_005247469.1:p.Val309Ala
XM_017006277.2:c.728T>C	XP_016861766.1:p.Val243Ala
NM_000187.4:c.1151T>C MANE Select	NP_000178.2:p.Val384Ala