Canonical Allele Identifier: CA2560155

Gene: HGD

Linked Data

• ClinVar Variation Id: 342746
• ClinVar RCV Id: RCV000404363
• dbSNP Id: rs769000073
• ExAC: 3:120365227 C / G
• gnomAD v2: 3-120365227-C-G
• gnomAD v3: 3-120646380-C-G
• gnomAD v4: 3-120646380-C-G
• MyVariant Identifiers: chr3:g.120365227C>G (hg19) ; chr3:g.120646380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646380C>G , CM000665.2:g.120646380C>G	GRCh38
NC_000003.11:g.120365227C>G , CM000665.1:g.120365227C>G	GRCh37
NC_000003.10:g.121847917C>G	NCBI36
NG_011957.1:g.41102G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-14G>C MANE Select	ENSP00000283871.5:n.550-14G>C
ENST00000283871.9:c.550-14G>C	ENSP00000283871.5:n.550-14G>C
ENST00000475447.2:c.81-14G>C
ENST00000492108.5:c.180+593G>C	ENSP00000419838.1:n.180+593G>C
NM_000187.3:c.550-14G>C	NP_000178.2:n.550-14G>C
XM_005247412.1:c.549+593G>C	XP_005247469.1:n.549+593G>C
XM_005247413.1:c.550-14G>C	XP_005247470.1:n.550-14G>C
XM_005247414.3:c.550-14G>C	XP_005247471.1:n.550-14G>C
XM_011512746.1:c.550-14G>C	XP_011511048.1:n.550-14G>C
XM_005247412.2:c.549+593G>C	XP_005247469.1:n.549+593G>C
XM_005247413.2:c.550-14G>C	XP_005247470.1:n.550-14G>C
XM_005247414.5:c.550-14G>C	XP_005247471.1:n.550-14G>C
XM_011512746.2:c.550-14G>C	XP_011511048.1:n.550-14G>C
XM_017006277.2:c.127-14G>C	XP_016861766.1:n.127-14G>C
NM_000187.4:c.550-14G>C MANE Select	NP_000178.2:n.550-14G>C