Canonical Allele Identifier: CA490314031

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534622G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242425G>T , CM000677.2:g.50242425G>T	GRCh38
NC_000015.9:g.50534622G>T , CM000677.1:g.50534622G>T	GRCh37
NC_000015.8:g.48321914G>T	NCBI36
NG_027487.1:g.28541C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1824C>A MANE Select	ENSP00000267845.3:p.Gly608=
ENST00000267845.7:c.1824C>A	ENSP00000267845.3:p.Gly608=
ENST00000543581.5:c.1725C>A	ENSP00000440252.1:p.Gly575=
ENST00000559816.1:n.1568C>A
NM_001306146.1:c.1725C>A	NP_001293075.1:p.Gly575=
NM_002112.3:c.1824C>A	NP_002103.2:p.Gly608=
XM_011521479.1:c.1587C>A	XP_011519781.1:p.Gly529=
XM_011521480.1:c.1392C>A	XP_011519782.1:p.Gly464=
XM_017022094.1:c.1929C>A	XP_016877583.1:p.Gly643=
XM_017022095.1:c.1830C>A	XP_016877584.1:p.Gly610=
XM_017022096.1:c.1701C>A	XP_016877585.1:p.Gly567=
XM_017022097.1:c.1692C>A	XP_016877586.1:p.Gly564=
XM_017022098.1:c.1497C>A	XP_016877587.1:p.Gly499=
NM_002112.4:c.1824C>A MANE Select	NP_002103.2:p.Gly608=
NM_001306146.2:c.1725C>A	NP_001293075.1:p.Gly575=