Canonical Allele Identifier: CA435229697

Gene: HGD

Linked Data

• ClinVar Variation Id: 2890397
• ClinVar RCV Id: RCV003608572
• gnomAD v4: 3-120670430-G-A
• MyVariant Identifiers: chr3:g.120389277G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670430G>A , CM000665.2:g.120670430G>A	GRCh38
NC_000003.11:g.120389277G>A , CM000665.1:g.120389277G>A	GRCh37
NC_000003.10:g.121871967G>A	NCBI36
NG_011957.1:g.17052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.279C>T MANE Select	ENSP00000283871.5:p.Asn93=
ENST00000283871.9:c.279C>T	ENSP00000283871.5:p.Asn93=
ENST00000466528.5:n.305C>T
ENST00000476082.2:c.156C>T	ENSP00000419560.2:p.Asn52=
ENST00000485313.5:n.387C>T
ENST00000488183.5:n.537C>T
NM_000187.3:c.279C>T	NP_000178.2:p.Asn93=
XM_005247412.1:c.279C>T	XP_005247469.1:p.Asn93=
XM_005247413.1:c.279C>T	XP_005247470.1:p.Asn93=
XM_005247414.3:c.279C>T	XP_005247471.1:p.Asn93=
XM_011512746.1:c.279C>T	XP_011511048.1:p.Asn93=
XM_005247412.2:c.279C>T	XP_005247469.1:p.Asn93=
XM_005247413.2:c.279C>T	XP_005247470.1:p.Asn93=
XM_005247414.5:c.279C>T	XP_005247471.1:p.Asn93=
XM_011512746.2:c.279C>T	XP_011511048.1:p.Asn93=
XM_017006277.2:c.-145C>T	XP_016861766.1:n.-145C>T
NM_000187.4:c.279C>T MANE Select	NP_000178.2:p.Asn93=