Canonical Allele Identifier: CA354072651

Gene: HGD

Linked Data

• gnomAD v4: 3-120633148-A-T
• MyVariant Identifiers: chr3:g.120351995A>T (hg19) ; chr3:g.120633148A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633148A>T , CM000665.2:g.120633148A>T	GRCh38
NC_000003.11:g.120351995A>T , CM000665.1:g.120351995A>T	GRCh37
NC_000003.10:g.121834685A>T	NCBI36
NG_011957.1:g.54334T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1187T>A MANE Select	ENSP00000283871.5:p.Met396Lys
ENST00000283871.9:c.1187T>A	ENSP00000283871.5:p.Met396Lys
ENST00000470321.1:n.527T>A
ENST00000492108.5:c.466T>A	ENSP00000419838.1:n.466T>A
NM_000187.3:c.1187T>A	NP_000178.2:p.Met396Lys
XM_005247412.1:c.962T>A	XP_005247469.1:p.Met321Lys
XM_005247412.2:c.962T>A	XP_005247469.1:p.Met321Lys
XM_017006277.2:c.764T>A	XP_016861766.1:p.Met255Lys
NM_000187.4:c.1187T>A MANE Select	NP_000178.2:p.Met396Lys