Canonical Allele Identifier: CA354082294

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120393834A>C (hg19) ; chr3:g.120674987A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674987A>C , CM000665.2:g.120674987A>C	GRCh38
NC_000003.11:g.120393834A>C , CM000665.1:g.120393834A>C	GRCh37
NC_000003.10:g.121876524A>C	NCBI36
NG_011957.1:g.12495T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.90T>G MANE Select	ENSP00000283871.5:p.Asn30Lys
ENST00000283871.9:c.90T>G	ENSP00000283871.5:p.Asn30Lys
ENST00000466528.5:n.116T>G
ENST00000476082.2:c.53+805T>G	ENSP00000419560.2:n.53+805T>G
ENST00000480862.1:n.248T>G
ENST00000485313.5:n.198T>G
ENST00000488183.5:n.348T>G
NM_000187.3:c.90T>G	NP_000178.2:p.Asn30Lys
XM_005247412.1:c.90T>G	XP_005247469.1:p.Asn30Lys
XM_005247413.1:c.90T>G	XP_005247470.1:p.Asn30Lys
XM_005247414.3:c.90T>G	XP_005247471.1:p.Asn30Lys
XM_011512746.1:c.90T>G	XP_011511048.1:p.Asn30Lys
XM_005247412.2:c.90T>G	XP_005247469.1:p.Asn30Lys
XM_005247413.2:c.90T>G	XP_005247470.1:p.Asn30Lys
XM_005247414.5:c.90T>G	XP_005247471.1:p.Asn30Lys
XM_011512746.2:c.90T>G	XP_011511048.1:p.Asn30Lys
XM_017006277.2:c.-334T>G	XP_016861766.1:n.-334T>G
NM_000187.4:c.90T>G MANE Select	NP_000178.2:p.Asn30Lys