Canonical Allele Identifier: CA81810530

Gene: HGD

Linked Data

• dbSNP Id: rs552418597
• gnomAD v2: 3-120393959-G-A
• gnomAD v3: 3-120675112-G-A
• gnomAD v4: 3-120675112-G-A
• MyVariant Identifiers: chr3:g.120393959G>A (hg19) ; chr3:g.120675112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675112G>A , CM000665.2:g.120675112G>A	GRCh38
NC_000003.11:g.120393959G>A , CM000665.1:g.120393959G>A	GRCh37
NC_000003.10:g.121876649G>A	NCBI36
NG_011957.1:g.12370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-123C>T MANE Select	ENSP00000283871.5:n.88-123C>T
ENST00000283871.9:c.88-123C>T	ENSP00000283871.5:n.88-123C>T
ENST00000466528.5:n.114-123C>T
ENST00000476082.2:c.53+680C>T	ENSP00000419560.2:n.53+680C>T
ENST00000480862.1:n.246-123C>T
ENST00000485313.5:n.196-123C>T
ENST00000488183.5:n.346-123C>T
NM_000187.3:c.88-123C>T	NP_000178.2:n.88-123C>T
XM_005247412.1:c.88-123C>T	XP_005247469.1:n.88-123C>T
XM_005247413.1:c.88-123C>T	XP_005247470.1:n.88-123C>T
XM_005247414.3:c.88-123C>T	XP_005247471.1:n.88-123C>T
XM_011512746.1:c.88-123C>T	XP_011511048.1:n.88-123C>T
XM_005247412.2:c.88-123C>T	XP_005247469.1:n.88-123C>T
XM_005247413.2:c.88-123C>T	XP_005247470.1:n.88-123C>T
XM_005247414.5:c.88-123C>T	XP_005247471.1:n.88-123C>T
XM_011512746.2:c.88-123C>T	XP_011511048.1:n.88-123C>T
XM_017006277.2:c.-336-123C>T	XP_016861766.1:n.-336-123C>T
NM_000187.4:c.88-123C>T MANE Select	NP_000178.2:n.88-123C>T