Canonical Allele Identifier: CA392377164

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534704G>C (hg19) ; chr15:g.50242507G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242507G>C , CM000677.2:g.50242507G>C	GRCh38
NC_000015.9:g.50534704G>C , CM000677.1:g.50534704G>C	GRCh37
NC_000015.8:g.48321996G>C	NCBI36
NG_027487.1:g.28459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1742C>G MANE Select	ENSP00000267845.3:p.Thr581Arg
ENST00000267845.7:c.1742C>G	ENSP00000267845.3:p.Thr581Arg
ENST00000543581.5:c.1643C>G	ENSP00000440252.1:p.Thr548Arg
ENST00000559816.1:n.1486C>G
NM_001306146.1:c.1643C>G	NP_001293075.1:p.Thr548Arg
NM_002112.3:c.1742C>G	NP_002103.2:p.Thr581Arg
XM_011521479.1:c.1505C>G	XP_011519781.1:p.Thr502Arg
XM_011521480.1:c.1310C>G	XP_011519782.1:p.Thr437Arg
XM_017022094.1:c.1847C>G	XP_016877583.1:p.Thr616Arg
XM_017022095.1:c.1748C>G	XP_016877584.1:p.Thr583Arg
XM_017022096.1:c.1619C>G	XP_016877585.1:p.Thr540Arg
XM_017022097.1:c.1610C>G	XP_016877586.1:p.Thr537Arg
XM_017022098.1:c.1415C>G	XP_016877587.1:p.Thr472Arg
NM_002112.4:c.1742C>G MANE Select	NP_002103.2:p.Thr581Arg
NM_001306146.2:c.1643C>G	NP_001293075.1:p.Thr548Arg