Canonical Allele Identifier: CA81786869

Gene: HGD

Linked Data

• dbSNP Id: rs547321554
• gnomAD v2: 3-120365374-T-A
• gnomAD v3: 3-120646527-T-A
• gnomAD v4: 3-120646527-T-A
• MyVariant Identifiers: chr3:g.120365374T>A (hg19) ; chr3:g.120646527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646527T>A , CM000665.2:g.120646527T>A	GRCh38
NC_000003.11:g.120365374T>A , CM000665.1:g.120365374T>A	GRCh37
NC_000003.10:g.121848064T>A	NCBI36
NG_011957.1:g.40955A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-161A>T MANE Select	ENSP00000283871.5:n.550-161A>T
ENST00000283871.9:c.550-161A>T	ENSP00000283871.5:n.550-161A>T
ENST00000475447.2:c.81-161A>T
ENST00000492108.5:c.180+446A>T	ENSP00000419838.1:n.180+446A>T
NM_000187.3:c.550-161A>T	NP_000178.2:n.550-161A>T
XM_005247412.1:c.549+446A>T	XP_005247469.1:n.549+446A>T
XM_005247413.1:c.550-161A>T	XP_005247470.1:n.550-161A>T
XM_005247414.3:c.550-161A>T	XP_005247471.1:n.550-161A>T
XM_011512746.1:c.550-161A>T	XP_011511048.1:n.550-161A>T
XM_005247412.2:c.549+446A>T	XP_005247469.1:n.549+446A>T
XM_005247413.2:c.550-161A>T	XP_005247470.1:n.550-161A>T
XM_005247414.5:c.550-161A>T	XP_005247471.1:n.550-161A>T
XM_011512746.2:c.550-161A>T	XP_011511048.1:n.550-161A>T
XM_017006277.2:c.127-161A>T	XP_016861766.1:n.127-161A>T
NM_000187.4:c.550-161A>T MANE Select	NP_000178.2:n.550-161A>T