Canonical Allele Identifier: CA545610715

Gene: HGD

Linked Data

• dbSNP Id: rs1279225539
• gnomAD v2: 3-120389236-G-C
• gnomAD v4: 3-120670389-G-C
• MyVariant Identifiers: chr3:g.120389236G>C (hg19) ; chr3:g.120670389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670389G>C , CM000665.2:g.120670389G>C	GRCh38
NC_000003.11:g.120389236G>C , CM000665.1:g.120389236G>C	GRCh37
NC_000003.10:g.121871926G>C	NCBI36
NG_011957.1:g.17093C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.282+38C>G MANE Select	ENSP00000283871.5:n.282+38C>G
ENST00000283871.9:c.282+38C>G	ENSP00000283871.5:n.282+38C>G
ENST00000466528.5:n.346C>G
ENST00000476082.2:c.159+38C>G	ENSP00000419560.2:n.159+38C>G
ENST00000485313.5:n.390+38C>G
ENST00000488183.5:n.540+38C>G
NM_000187.3:c.282+38C>G	NP_000178.2:n.282+38C>G
XM_005247412.1:c.282+38C>G	XP_005247469.1:n.282+38C>G
XM_005247413.1:c.282+38C>G	XP_005247470.1:n.282+38C>G
XM_005247414.3:c.282+38C>G	XP_005247471.1:n.282+38C>G
XM_011512746.1:c.282+38C>G	XP_011511048.1:n.282+38C>G
XM_005247412.2:c.282+38C>G	XP_005247469.1:n.282+38C>G
XM_005247413.2:c.282+38C>G	XP_005247470.1:n.282+38C>G
XM_005247414.5:c.282+38C>G	XP_005247471.1:n.282+38C>G
XM_011512746.2:c.282+38C>G	XP_011511048.1:n.282+38C>G
XM_017006277.2:c.-142+38C>G	XP_016861766.1:n.-142+38C>G
NM_000187.4:c.282+38C>G MANE Select	NP_000178.2:n.282+38C>G