Canonical Allele Identifier: CA2560307

Gene: HGD

Linked Data

• ClinVar Variation Id: 2559813
• ClinVar RCV Id: RCV003309513
• dbSNP Id: rs370003137
• ExAC: 3:120389357 A / G
• gnomAD v2: 3-120389357-A-G
• gnomAD v3: 3-120670510-A-G
• gnomAD v4: 3-120670510-A-G
• MyVariant Identifiers: chr3:g.120389357A>G (hg19) ; chr3:g.120670510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670510A>G , CM000665.2:g.120670510A>G	GRCh38
NC_000003.11:g.120389357A>G , CM000665.1:g.120389357A>G	GRCh37
NC_000003.10:g.121872047A>G	NCBI36
NG_011957.1:g.16972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.199T>C MANE Select	ENSP00000283871.5:p.Ser67Pro
ENST00000283871.9:c.199T>C	ENSP00000283871.5:p.Ser67Pro
ENST00000466528.5:n.225T>C
ENST00000476082.2:c.76T>C	ENSP00000419560.2:p.Ser26Pro
ENST00000485313.5:n.307T>C
ENST00000488183.5:n.457T>C
NM_000187.3:c.199T>C	NP_000178.2:p.Ser67Pro
XM_005247412.1:c.199T>C	XP_005247469.1:p.Ser67Pro
XM_005247413.1:c.199T>C	XP_005247470.1:p.Ser67Pro
XM_005247414.3:c.199T>C	XP_005247471.1:p.Ser67Pro
XM_011512746.1:c.199T>C	XP_011511048.1:p.Ser67Pro
XM_005247412.2:c.199T>C	XP_005247469.1:p.Ser67Pro
XM_005247413.2:c.199T>C	XP_005247470.1:p.Ser67Pro
XM_005247414.5:c.199T>C	XP_005247471.1:p.Ser67Pro
XM_011512746.2:c.199T>C	XP_011511048.1:p.Ser67Pro
XM_017006277.2:c.-225T>C	XP_016861766.1:n.-225T>C
NM_000187.4:c.199T>C MANE Select	NP_000178.2:p.Ser67Pro