Canonical Allele Identifier: CA344903

Gene: HGD

Linked Data

• ClinVar Variation Id: 2626854
• ClinVar RCV Id: RCV003387491
• dbSNP Id: rs369517993
• gnomAD v3: 3-120674937-G-A
• gnomAD v4: 3-120674937-G-A
• COSMIC: COSM1036868
• MyVariant Identifiers: chr3:g.120393784G>A (hg19) ; chr3:g.120674937G>A (hg38)
• PubMed: PMID:20301627

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674937G>A , CM000665.2:g.120674937G>A	GRCh38
NC_000003.11:g.120393784G>A , CM000665.1:g.120393784G>A	GRCh37
NC_000003.10:g.121876474G>A	NCBI36
NG_011957.1:g.12545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.140C>T MANE Select	ENSP00000283871.5:p.Ser47Leu
ENST00000283871.9:c.140C>T	ENSP00000283871.5:p.Ser47Leu
ENST00000466528.5:n.166C>T
ENST00000476082.2:c.53+855C>T	ENSP00000419560.2:n.53+855C>T
ENST00000480862.1:n.298C>T
ENST00000485313.5:n.248C>T
ENST00000488183.5:n.398C>T
NM_000187.3:c.140C>T	NP_000178.2:p.Ser47Leu
XM_005247412.1:c.140C>T	XP_005247469.1:p.Ser47Leu
XM_005247413.1:c.140C>T	XP_005247470.1:p.Ser47Leu
XM_005247414.3:c.140C>T	XP_005247471.1:p.Ser47Leu
XM_011512746.1:c.140C>T	XP_011511048.1:p.Ser47Leu
XM_005247412.2:c.140C>T	XP_005247469.1:p.Ser47Leu
XM_005247413.2:c.140C>T	XP_005247470.1:p.Ser47Leu
XM_005247414.5:c.140C>T	XP_005247471.1:p.Ser47Leu
XM_011512746.2:c.140C>T	XP_011511048.1:p.Ser47Leu
XM_017006277.2:c.-284C>T	XP_016861766.1:n.-284C>T
NM_000187.4:c.140C>T MANE Select	NP_000178.2:p.Ser47Leu