Canonical Allele Identifier: CA354072920

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120352123C>A (hg19) ; chr3:g.120633276C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633276C>A , CM000665.2:g.120633276C>A	GRCh38
NC_000003.11:g.120352123C>A , CM000665.1:g.120352123C>A	GRCh37
NC_000003.10:g.121834813C>A	NCBI36
NG_011957.1:g.54206G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1059G>T MANE Select	ENSP00000283871.5:p.Lys353Asn
ENST00000283871.9:c.1059G>T	ENSP00000283871.5:p.Lys353Asn
ENST00000470321.1:n.399G>T
ENST00000492108.5:c.338G>T	ENSP00000419838.1:n.338G>T
NM_000187.3:c.1059G>T	NP_000178.2:p.Lys353Asn
XM_005247412.1:c.834G>T	XP_005247469.1:p.Lys278Asn
XM_005247412.2:c.834G>T	XP_005247469.1:p.Lys278Asn
XM_017006277.2:c.636G>T	XP_016861766.1:p.Lys212Asn
NM_000187.4:c.1059G>T MANE Select	NP_000178.2:p.Lys353Asn