Canonical Allele Identifier: CA392377136

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534688A>C (hg19) ; chr15:g.50242491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242491A>C , CM000677.2:g.50242491A>C	GRCh38
NC_000015.9:g.50534688A>C , CM000677.1:g.50534688A>C	GRCh37
NC_000015.8:g.48321980A>C	NCBI36
NG_027487.1:g.28475T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1758T>G MANE Select	ENSP00000267845.3:p.Ser586Arg
ENST00000267845.7:c.1758T>G	ENSP00000267845.3:p.Ser586Arg
ENST00000543581.5:c.1659T>G	ENSP00000440252.1:p.Ser553Arg
ENST00000559816.1:n.1502T>G
NM_001306146.1:c.1659T>G	NP_001293075.1:p.Ser553Arg
NM_002112.3:c.1758T>G	NP_002103.2:p.Ser586Arg
XM_011521479.1:c.1521T>G	XP_011519781.1:p.Ser507Arg
XM_011521480.1:c.1326T>G	XP_011519782.1:p.Ser442Arg
XM_017022094.1:c.1863T>G	XP_016877583.1:p.Ser621Arg
XM_017022095.1:c.1764T>G	XP_016877584.1:p.Ser588Arg
XM_017022096.1:c.1635T>G	XP_016877585.1:p.Ser545Arg
XM_017022097.1:c.1626T>G	XP_016877586.1:p.Ser542Arg
XM_017022098.1:c.1431T>G	XP_016877587.1:p.Ser477Arg
NM_002112.4:c.1758T>G MANE Select	NP_002103.2:p.Ser586Arg
NM_001306146.2:c.1659T>G	NP_001293075.1:p.Ser553Arg