Canonical Allele Identifier: CA392377189

Gene: HDC

Linked Data

• dbSNP Id: rs2045409900
• MyVariant Identifiers: chr15:g.50534714T>C (hg19) ; chr15:g.50242517T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1732A>G MANE Select	ENSP00000267845.3:p.Lys578Glu
ENST00000267845.7:c.1732A>G	ENSP00000267845.3:p.Lys578Glu
ENST00000543581.5:c.1633A>G	ENSP00000440252.1:p.Lys545Glu
ENST00000559816.1:n.1476A>G
NM_001306146.1:c.1633A>G	NP_001293075.1:p.Lys545Glu
NM_002112.3:c.1732A>G	NP_002103.2:p.Lys578Glu
XM_011521479.1:c.1495A>G	XP_011519781.1:p.Lys499Glu
XM_011521480.1:c.1300A>G	XP_011519782.1:p.Lys434Glu
XM_017022094.1:c.1837A>G	XP_016877583.1:p.Lys613Glu
XM_017022095.1:c.1738A>G	XP_016877584.1:p.Lys580Glu
XM_017022096.1:c.1609A>G	XP_016877585.1:p.Lys537Glu
XM_017022097.1:c.1600A>G	XP_016877586.1:p.Lys534Glu
XM_017022098.1:c.1405A>G	XP_016877587.1:p.Lys469Glu
NM_002112.4:c.1732A>G MANE Select	NP_002103.2:p.Lys578Glu
NM_001306146.2:c.1633A>G	NP_001293075.1:p.Lys545Glu