Canonical Allele Identifier: CA897918007

Gene: HGD

Linked Data

• dbSNP Id: rs1189827882
• gnomAD v3: 3-120646595-C-T
• gnomAD v4: 3-120646595-C-T
• MyVariant Identifiers: chr3:g.120365442C>T (hg19) ; chr3:g.120646595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646595C>T , CM000665.2:g.120646595C>T	GRCh38
NC_000003.11:g.120365442C>T , CM000665.1:g.120365442C>T	GRCh37
NC_000003.10:g.121848132C>T	NCBI36
NG_011957.1:g.40887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-229G>A MANE Select	ENSP00000283871.5:n.550-229G>A
ENST00000283871.9:c.550-229G>A	ENSP00000283871.5:n.550-229G>A
ENST00000475447.2:c.81-229G>A
ENST00000492108.5:c.180+378G>A	ENSP00000419838.1:n.180+378G>A
NM_000187.3:c.550-229G>A	NP_000178.2:n.550-229G>A
XM_005247412.1:c.549+378G>A	XP_005247469.1:n.549+378G>A
XM_005247413.1:c.550-229G>A	XP_005247470.1:n.550-229G>A
XM_005247414.3:c.550-229G>A	XP_005247471.1:n.550-229G>A
XM_011512746.1:c.550-229G>A	XP_011511048.1:n.550-229G>A
XM_005247412.2:c.549+378G>A	XP_005247469.1:n.549+378G>A
XM_005247413.2:c.550-229G>A	XP_005247470.1:n.550-229G>A
XM_005247414.5:c.550-229G>A	XP_005247471.1:n.550-229G>A
XM_011512746.2:c.550-229G>A	XP_011511048.1:n.550-229G>A
XM_017006277.2:c.127-229G>A	XP_016861766.1:n.127-229G>A
NM_000187.4:c.550-229G>A MANE Select	NP_000178.2:n.550-229G>A