Canonical Allele Identifier: CA392377152

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534696A>C (hg19) ; chr15:g.50242499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242499A>C , CM000677.2:g.50242499A>C	GRCh38
NC_000015.9:g.50534696A>C , CM000677.1:g.50534696A>C	GRCh37
NC_000015.8:g.48321988A>C	NCBI36
NG_027487.1:g.28467T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1750T>G MANE Select	ENSP00000267845.3:p.Ser584Ala
ENST00000267845.7:c.1750T>G	ENSP00000267845.3:p.Ser584Ala
ENST00000543581.5:c.1651T>G	ENSP00000440252.1:p.Ser551Ala
ENST00000559816.1:n.1494T>G
NM_001306146.1:c.1651T>G	NP_001293075.1:p.Ser551Ala
NM_002112.3:c.1750T>G	NP_002103.2:p.Ser584Ala
XM_011521479.1:c.1513T>G	XP_011519781.1:p.Ser505Ala
XM_011521480.1:c.1318T>G	XP_011519782.1:p.Ser440Ala
XM_017022094.1:c.1855T>G	XP_016877583.1:p.Ser619Ala
XM_017022095.1:c.1756T>G	XP_016877584.1:p.Ser586Ala
XM_017022096.1:c.1627T>G	XP_016877585.1:p.Ser543Ala
XM_017022097.1:c.1618T>G	XP_016877586.1:p.Ser540Ala
XM_017022098.1:c.1423T>G	XP_016877587.1:p.Ser475Ala
NM_002112.4:c.1750T>G MANE Select	NP_002103.2:p.Ser584Ala
NM_001306146.2:c.1651T>G	NP_001293075.1:p.Ser551Ala