Canonical Allele Identifier: CA435227496

Gene: HGD

Linked Data

• ClinVar Variation Id: 1090165
• ClinVar RCV Id: RCV001409230
• dbSNP Id: rs1189623213
• gnomAD v2: 3-120357396-C-T
• gnomAD v4: 3-120638549-C-T
• MyVariant Identifiers: chr3:g.120357396C>T (hg19) ; chr3:g.120638549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638549C>T , CM000665.2:g.120638549C>T	GRCh38
NC_000003.11:g.120357396C>T , CM000665.1:g.120357396C>T	GRCh37
NC_000003.10:g.121840086C>T	NCBI36
NG_011957.1:g.48933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.912G>A MANE Select	ENSP00000283871.5:p.Lys304=
ENST00000283871.9:c.912G>A	ENSP00000283871.5:p.Lys304=
ENST00000470321.1:n.252G>A
ENST00000475447.2:c.307+3040G>A
ENST00000492108.5:c.285+3040G>A	ENSP00000419838.1:n.285+3040G>A
ENST00000494453.1:c.332G>A
NM_000187.3:c.912G>A	NP_000178.2:p.Lys304=
XM_005247412.1:c.687G>A	XP_005247469.1:p.Lys229=
XM_005247413.1:c.912G>A	XP_005247470.1:p.Lys304=
XM_011512746.1:c.879+3040G>A	XP_011511048.1:n.879+3040G>A
XM_005247412.2:c.687G>A	XP_005247469.1:p.Lys229=
XM_005247413.2:c.912G>A	XP_005247470.1:p.Lys304=
XM_011512746.2:c.879+3040G>A	XP_011511048.1:n.879+3040G>A
XM_017006277.2:c.489G>A	XP_016861766.1:p.Lys163=
NM_000187.4:c.912G>A MANE Select	NP_000178.2:p.Lys304=