Canonical Allele Identifier: CA392377190

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534714T>G (hg19) ; chr15:g.50242517T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242517T>G , CM000677.2:g.50242517T>G	GRCh38
NC_000015.9:g.50534714T>G , CM000677.1:g.50534714T>G	GRCh37
NC_000015.8:g.48322006T>G	NCBI36
NG_027487.1:g.28449A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1732A>C MANE Select	ENSP00000267845.3:p.Lys578Gln
ENST00000267845.7:c.1732A>C	ENSP00000267845.3:p.Lys578Gln
ENST00000543581.5:c.1633A>C	ENSP00000440252.1:p.Lys545Gln
ENST00000559816.1:n.1476A>C
NM_001306146.1:c.1633A>C	NP_001293075.1:p.Lys545Gln
NM_002112.3:c.1732A>C	NP_002103.2:p.Lys578Gln
XM_011521479.1:c.1495A>C	XP_011519781.1:p.Lys499Gln
XM_011521480.1:c.1300A>C	XP_011519782.1:p.Lys434Gln
XM_017022094.1:c.1837A>C	XP_016877583.1:p.Lys613Gln
XM_017022095.1:c.1738A>C	XP_016877584.1:p.Lys580Gln
XM_017022096.1:c.1609A>C	XP_016877585.1:p.Lys537Gln
XM_017022097.1:c.1600A>C	XP_016877586.1:p.Lys534Gln
XM_017022098.1:c.1405A>C	XP_016877587.1:p.Lys469Gln
NM_002112.4:c.1732A>C MANE Select	NP_002103.2:p.Lys578Gln
NM_001306146.2:c.1633A>C	NP_001293075.1:p.Lys545Gln