Canonical Allele Identifier: CA392377186

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534713T>C (hg19) ; chr15:g.50242516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242516T>C , CM000677.2:g.50242516T>C	GRCh38
NC_000015.9:g.50534713T>C , CM000677.1:g.50534713T>C	GRCh37
NC_000015.8:g.48322005T>C	NCBI36
NG_027487.1:g.28450A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1733A>G MANE Select	ENSP00000267845.3:p.Lys578Arg
ENST00000267845.7:c.1733A>G	ENSP00000267845.3:p.Lys578Arg
ENST00000543581.5:c.1634A>G	ENSP00000440252.1:p.Lys545Arg
ENST00000559816.1:n.1477A>G
NM_001306146.1:c.1634A>G	NP_001293075.1:p.Lys545Arg
NM_002112.3:c.1733A>G	NP_002103.2:p.Lys578Arg
XM_011521479.1:c.1496A>G	XP_011519781.1:p.Lys499Arg
XM_011521480.1:c.1301A>G	XP_011519782.1:p.Lys434Arg
XM_017022094.1:c.1838A>G	XP_016877583.1:p.Lys613Arg
XM_017022095.1:c.1739A>G	XP_016877584.1:p.Lys580Arg
XM_017022096.1:c.1610A>G	XP_016877585.1:p.Lys537Arg
XM_017022097.1:c.1601A>G	XP_016877586.1:p.Lys534Arg
XM_017022098.1:c.1406A>G	XP_016877587.1:p.Lys469Arg
NM_002112.4:c.1733A>G MANE Select	NP_002103.2:p.Lys578Arg
NM_001306146.2:c.1634A>G	NP_001293075.1:p.Lys545Arg