Canonical Allele Identifier: CA490314201

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534727C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242530C>T , CM000677.2:g.50242530C>T	GRCh38
NC_000015.9:g.50534727C>T , CM000677.1:g.50534727C>T	GRCh37
NC_000015.8:g.48322019C>T	NCBI36
NG_027487.1:g.28436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1719G>A MANE Select	ENSP00000267845.3:p.Leu573=
ENST00000267845.7:c.1719G>A	ENSP00000267845.3:p.Leu573=
ENST00000543581.5:c.1620G>A	ENSP00000440252.1:p.Leu540=
ENST00000559816.1:n.1463G>A
NM_001306146.1:c.1620G>A	NP_001293075.1:p.Leu540=
NM_002112.3:c.1719G>A	NP_002103.2:p.Leu573=
XM_011521479.1:c.1482G>A	XP_011519781.1:p.Leu494=
XM_011521480.1:c.1287G>A	XP_011519782.1:p.Leu429=
XM_017022094.1:c.1824G>A	XP_016877583.1:p.Leu608=
XM_017022095.1:c.1725G>A	XP_016877584.1:p.Leu575=
XM_017022096.1:c.1596G>A	XP_016877585.1:p.Leu532=
XM_017022097.1:c.1587G>A	XP_016877586.1:p.Leu529=
XM_017022098.1:c.1392G>A	XP_016877587.1:p.Leu464=
NM_002112.4:c.1719G>A MANE Select	NP_002103.2:p.Leu573=
NM_001306146.2:c.1620G>A	NP_001293075.1:p.Leu540=