Canonical Allele Identifier: CA490314118

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534673T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242476T>A , CM000677.2:g.50242476T>A	GRCh38
NC_000015.9:g.50534673T>A , CM000677.1:g.50534673T>A	GRCh37
NC_000015.8:g.48321965T>A	NCBI36
NG_027487.1:g.28490A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1773A>T MANE Select	ENSP00000267845.3:p.Pro591=
ENST00000267845.7:c.1773A>T	ENSP00000267845.3:p.Pro591=
ENST00000543581.5:c.1674A>T	ENSP00000440252.1:p.Pro558=
ENST00000559816.1:n.1517A>T
NM_001306146.1:c.1674A>T	NP_001293075.1:p.Pro558=
NM_002112.3:c.1773A>T	NP_002103.2:p.Pro591=
XM_011521479.1:c.1536A>T	XP_011519781.1:p.Pro512=
XM_011521480.1:c.1341A>T	XP_011519782.1:p.Pro447=
XM_017022094.1:c.1878A>T	XP_016877583.1:p.Pro626=
XM_017022095.1:c.1779A>T	XP_016877584.1:p.Pro593=
XM_017022096.1:c.1650A>T	XP_016877585.1:p.Pro550=
XM_017022097.1:c.1641A>T	XP_016877586.1:p.Pro547=
XM_017022098.1:c.1446A>T	XP_016877587.1:p.Pro482=
NM_002112.4:c.1773A>T MANE Select	NP_002103.2:p.Pro591=
NM_001306146.2:c.1674A>T	NP_001293075.1:p.Pro558=