Canonical Allele Identifier: CA490314002

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534598G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242401G>T , CM000677.2:g.50242401G>T	GRCh38
NC_000015.9:g.50534598G>T , CM000677.1:g.50534598G>T	GRCh37
NC_000015.8:g.48321890G>T	NCBI36
NG_027487.1:g.28565C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1848C>A MANE Select	ENSP00000267845.3:p.Ser616=
ENST00000267845.7:c.1848C>A	ENSP00000267845.3:p.Ser616=
ENST00000543581.5:c.1749C>A	ENSP00000440252.1:p.Ser583=
ENST00000559816.1:n.1592C>A
NM_001306146.1:c.1749C>A	NP_001293075.1:p.Ser583=
NM_002112.3:c.1848C>A	NP_002103.2:p.Ser616=
XM_011521479.1:c.1611C>A	XP_011519781.1:p.Ser537=
XM_011521480.1:c.1416C>A	XP_011519782.1:p.Ser472=
XM_017022094.1:c.1953C>A	XP_016877583.1:p.Ser651=
XM_017022095.1:c.1854C>A	XP_016877584.1:p.Ser618=
XM_017022096.1:c.1725C>A	XP_016877585.1:p.Ser575=
XM_017022097.1:c.1716C>A	XP_016877586.1:p.Ser572=
XM_017022098.1:c.1521C>A	XP_016877587.1:p.Ser507=
NM_002112.4:c.1848C>A MANE Select	NP_002103.2:p.Ser616=
NM_001306146.2:c.1749C>A	NP_001293075.1:p.Ser583=