Canonical Allele Identifier: CA354082268

Gene: HGD

Linked Data

• ClinVar Variation Id: 493367
• ClinVar RCV Id: RCV000584944
• dbSNP Id: rs1553721599
• gnomAD v4: 3-120674983-G-A
• COSMIC: COSM3585846
• MyVariant Identifiers: chr3:g.120393830G>A (hg19) ; chr3:g.120674983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674983G>A , CM000665.2:g.120674983G>A	GRCh38
NC_000003.11:g.120393830G>A , CM000665.1:g.120393830G>A	GRCh37
NC_000003.10:g.121876520G>A	NCBI36
NG_011957.1:g.12499C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.94C>T MANE Select	ENSP00000283871.5:p.Pro32Ser
ENST00000283871.9:c.94C>T	ENSP00000283871.5:p.Pro32Ser
ENST00000466528.5:n.120C>T
ENST00000476082.2:c.53+809C>T	ENSP00000419560.2:n.53+809C>T
ENST00000480862.1:n.252C>T
ENST00000485313.5:n.202C>T
ENST00000488183.5:n.352C>T
NM_000187.3:c.94C>T	NP_000178.2:p.Pro32Ser
XM_005247412.1:c.94C>T	XP_005247469.1:p.Pro32Ser
XM_005247413.1:c.94C>T	XP_005247470.1:p.Pro32Ser
XM_005247414.3:c.94C>T	XP_005247471.1:p.Pro32Ser
XM_011512746.1:c.94C>T	XP_011511048.1:p.Pro32Ser
XM_005247412.2:c.94C>T	XP_005247469.1:p.Pro32Ser
XM_005247413.2:c.94C>T	XP_005247470.1:p.Pro32Ser
XM_005247414.5:c.94C>T	XP_005247471.1:p.Pro32Ser
XM_011512746.2:c.94C>T	XP_011511048.1:p.Pro32Ser
XM_017006277.2:c.-330C>T	XP_016861766.1:n.-330C>T
NM_000187.4:c.94C>T MANE Select	NP_000178.2:p.Pro32Ser