Canonical Allele Identifier: CA490314188

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534715A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242518A>G , CM000677.2:g.50242518A>G	GRCh38
NC_000015.9:g.50534715A>G , CM000677.1:g.50534715A>G	GRCh37
NC_000015.8:g.48322007A>G	NCBI36
NG_027487.1:g.28448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1731T>C MANE Select	ENSP00000267845.3:p.Thr577=
ENST00000267845.7:c.1731T>C	ENSP00000267845.3:p.Thr577=
ENST00000543581.5:c.1632T>C	ENSP00000440252.1:p.Thr544=
ENST00000559816.1:n.1475T>C
NM_001306146.1:c.1632T>C	NP_001293075.1:p.Thr544=
NM_002112.3:c.1731T>C	NP_002103.2:p.Thr577=
XM_011521479.1:c.1494T>C	XP_011519781.1:p.Thr498=
XM_011521480.1:c.1299T>C	XP_011519782.1:p.Thr433=
XM_017022094.1:c.1836T>C	XP_016877583.1:p.Thr612=
XM_017022095.1:c.1737T>C	XP_016877584.1:p.Thr579=
XM_017022096.1:c.1608T>C	XP_016877585.1:p.Thr536=
XM_017022097.1:c.1599T>C	XP_016877586.1:p.Thr533=
XM_017022098.1:c.1404T>C	XP_016877587.1:p.Thr468=
NM_002112.4:c.1731T>C MANE Select	NP_002103.2:p.Thr577=
NM_001306146.2:c.1632T>C	NP_001293075.1:p.Thr544=