Canonical Allele Identifier: CA392376947

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534596C>T (hg19) ; chr15:g.50242399C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242399C>T , CM000677.2:g.50242399C>T	GRCh38
NC_000015.9:g.50534596C>T , CM000677.1:g.50534596C>T	GRCh37
NC_000015.8:g.48321888C>T	NCBI36
NG_027487.1:g.28567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1850G>A MANE Select	ENSP00000267845.3:p.Arg617Lys
ENST00000267845.7:c.1850G>A	ENSP00000267845.3:p.Arg617Lys
ENST00000543581.5:c.1751G>A	ENSP00000440252.1:p.Arg584Lys
ENST00000559816.1:n.1594G>A
NM_001306146.1:c.1751G>A	NP_001293075.1:p.Arg584Lys
NM_002112.3:c.1850G>A	NP_002103.2:p.Arg617Lys
XM_011521479.1:c.1613G>A	XP_011519781.1:p.Arg538Lys
XM_011521480.1:c.1418G>A	XP_011519782.1:p.Arg473Lys
XM_017022094.1:c.1955G>A	XP_016877583.1:p.Arg652Lys
XM_017022095.1:c.1856G>A	XP_016877584.1:p.Arg619Lys
XM_017022096.1:c.1727G>A	XP_016877585.1:p.Arg576Lys
XM_017022097.1:c.1718G>A	XP_016877586.1:p.Arg573Lys
XM_017022098.1:c.1523G>A	XP_016877587.1:p.Arg508Lys
NM_002112.4:c.1850G>A MANE Select	NP_002103.2:p.Arg617Lys
NM_001306146.2:c.1751G>A	NP_001293075.1:p.Arg584Lys