Canonical Allele Identifier: CA2560337

Gene: HGD

Linked Data

• ClinVar Variation Id: 342753
• ClinVar RCV Id: RCV000360783
• dbSNP Id: rs138846036
• ExAC: 3:120393782 C / A
• gnomAD v2: 3-120393782-C-A
• gnomAD v3: 3-120674935-C-A
• gnomAD v4: 3-120674935-C-A
• MyVariant Identifiers: chr3:g.120393782C>A (hg19) ; chr3:g.120674935C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674935C>A , CM000665.2:g.120674935C>A	GRCh38
NC_000003.11:g.120393782C>A , CM000665.1:g.120393782C>A	GRCh37
NC_000003.10:g.121876472C>A	NCBI36
NG_011957.1:g.12547G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.142G>T MANE Select	ENSP00000283871.5:p.Ala48Ser
ENST00000283871.9:c.142G>T	ENSP00000283871.5:p.Ala48Ser
ENST00000466528.5:n.168G>T
ENST00000476082.2:c.53+857G>T	ENSP00000419560.2:n.53+857G>T
ENST00000480862.1:n.300G>T
ENST00000485313.5:n.250G>T
ENST00000488183.5:n.400G>T
NM_000187.3:c.142G>T	NP_000178.2:p.Ala48Ser
XM_005247412.1:c.142G>T	XP_005247469.1:p.Ala48Ser
XM_005247413.1:c.142G>T	XP_005247470.1:p.Ala48Ser
XM_005247414.3:c.142G>T	XP_005247471.1:p.Ala48Ser
XM_011512746.1:c.142G>T	XP_011511048.1:p.Ala48Ser
XM_005247412.2:c.142G>T	XP_005247469.1:p.Ala48Ser
XM_005247413.2:c.142G>T	XP_005247470.1:p.Ala48Ser
XM_005247414.5:c.142G>T	XP_005247471.1:p.Ala48Ser
XM_011512746.2:c.142G>T	XP_011511048.1:p.Ala48Ser
XM_017006277.2:c.-282G>T	XP_016861766.1:n.-282G>T
NM_000187.4:c.142G>T MANE Select	NP_000178.2:p.Ala48Ser