Canonical Allele Identifier: CA392377183

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534712C>G (hg19) ; chr15:g.50242515C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242515C>G , CM000677.2:g.50242515C>G	GRCh38
NC_000015.9:g.50534712C>G , CM000677.1:g.50534712C>G	GRCh37
NC_000015.8:g.48322004C>G	NCBI36
NG_027487.1:g.28451G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1734G>C MANE Select	ENSP00000267845.3:p.Lys578Asn
ENST00000267845.7:c.1734G>C	ENSP00000267845.3:p.Lys578Asn
ENST00000543581.5:c.1635G>C	ENSP00000440252.1:p.Lys545Asn
ENST00000559816.1:n.1478G>C
NM_001306146.1:c.1635G>C	NP_001293075.1:p.Lys545Asn
NM_002112.3:c.1734G>C	NP_002103.2:p.Lys578Asn
XM_011521479.1:c.1497G>C	XP_011519781.1:p.Lys499Asn
XM_011521480.1:c.1302G>C	XP_011519782.1:p.Lys434Asn
XM_017022094.1:c.1839G>C	XP_016877583.1:p.Lys613Asn
XM_017022095.1:c.1740G>C	XP_016877584.1:p.Lys580Asn
XM_017022096.1:c.1611G>C	XP_016877585.1:p.Lys537Asn
XM_017022097.1:c.1602G>C	XP_016877586.1:p.Lys534Asn
XM_017022098.1:c.1407G>C	XP_016877587.1:p.Lys469Asn
NM_002112.4:c.1734G>C MANE Select	NP_002103.2:p.Lys578Asn
NM_001306146.2:c.1635G>C	NP_001293075.1:p.Lys545Asn