Canonical Allele Identifier: CA392376946

Gene: HDC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1850G>C MANE Select	ENSP00000267845.3:p.Arg617Thr
ENST00000267845.7:c.1850G>C	ENSP00000267845.3:p.Arg617Thr
ENST00000543581.5:c.1751G>C	ENSP00000440252.1:p.Arg584Thr
ENST00000559816.1:n.1594G>C
NM_001306146.1:c.1751G>C	NP_001293075.1:p.Arg584Thr
NM_002112.3:c.1850G>C	NP_002103.2:p.Arg617Thr
XM_011521479.1:c.1613G>C	XP_011519781.1:p.Arg538Thr
XM_011521480.1:c.1418G>C	XP_011519782.1:p.Arg473Thr
XM_017022094.1:c.1955G>C	XP_016877583.1:p.Arg652Thr
XM_017022095.1:c.1856G>C	XP_016877584.1:p.Arg619Thr
XM_017022096.1:c.1727G>C	XP_016877585.1:p.Arg576Thr
XM_017022097.1:c.1718G>C	XP_016877586.1:p.Arg573Thr
XM_017022098.1:c.1523G>C	XP_016877587.1:p.Arg508Thr
NM_002112.4:c.1850G>C MANE Select	NP_002103.2:p.Arg617Thr
NM_001306146.2:c.1751G>C	NP_001293075.1:p.Arg584Thr