Canonical Allele Identifier: CA545610749

Gene: HGD

Linked Data

• ClinVar Variation Id: 2802575
• ClinVar RCV Id: RCV003607768
• dbSNP Id: rs1248906056
• gnomAD v2: 3-120389397-C-G
• gnomAD v3: 3-120670550-C-G
• gnomAD v4: 3-120670550-C-G
• MyVariant Identifiers: chr3:g.120389397C>G (hg19) ; chr3:g.120670550C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670550C>G , CM000665.2:g.120670550C>G	GRCh38
NC_000003.11:g.120389397C>G , CM000665.1:g.120389397C>G	GRCh37
NC_000003.10:g.121872087C>G	NCBI36
NG_011957.1:g.16932G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.177-18G>C MANE Select	ENSP00000283871.5:n.177-18G>C
ENST00000283871.9:c.177-18G>C	ENSP00000283871.5:n.177-18G>C
ENST00000466528.5:n.203-18G>C
ENST00000476082.2:c.54-18G>C	ENSP00000419560.2:n.54-18G>C
ENST00000485313.5:n.285-18G>C
ENST00000488183.5:n.435-18G>C
NM_000187.3:c.177-18G>C	NP_000178.2:n.177-18G>C
XM_005247412.1:c.177-18G>C	XP_005247469.1:n.177-18G>C
XM_005247413.1:c.177-18G>C	XP_005247470.1:n.177-18G>C
XM_005247414.3:c.177-18G>C	XP_005247471.1:n.177-18G>C
XM_011512746.1:c.177-18G>C	XP_011511048.1:n.177-18G>C
XM_005247412.2:c.177-18G>C	XP_005247469.1:n.177-18G>C
XM_005247413.2:c.177-18G>C	XP_005247470.1:n.177-18G>C
XM_005247414.5:c.177-18G>C	XP_005247471.1:n.177-18G>C
XM_011512746.2:c.177-18G>C	XP_011511048.1:n.177-18G>C
XM_017006277.2:c.-247-18G>C	XP_016861766.1:n.-247-18G>C
NM_000187.4:c.177-18G>C MANE Select	NP_000178.2:n.177-18G>C