Canonical Allele Identifier: CA490313991

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534589T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242392T>G , CM000677.2:g.50242392T>G	GRCh38
NC_000015.9:g.50534589T>G , CM000677.1:g.50534589T>G	GRCh37
NC_000015.8:g.48321881T>G	NCBI36
NG_027487.1:g.28574A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1857A>C MANE Select	ENSP00000267845.3:p.Pro619=
ENST00000267845.7:c.1857A>C	ENSP00000267845.3:p.Pro619=
ENST00000543581.5:c.1758A>C	ENSP00000440252.1:p.Pro586=
ENST00000559816.1:n.1601A>C
NM_001306146.1:c.1758A>C	NP_001293075.1:p.Pro586=
NM_002112.3:c.1857A>C	NP_002103.2:p.Pro619=
XM_011521479.1:c.1620A>C	XP_011519781.1:p.Pro540=
XM_011521480.1:c.1425A>C	XP_011519782.1:p.Pro475=
XM_017022094.1:c.1962A>C	XP_016877583.1:p.Pro654=
XM_017022095.1:c.1863A>C	XP_016877584.1:p.Pro621=
XM_017022096.1:c.1734A>C	XP_016877585.1:p.Pro578=
XM_017022097.1:c.1725A>C	XP_016877586.1:p.Pro575=
XM_017022098.1:c.1530A>C	XP_016877587.1:p.Pro510=
NM_002112.4:c.1857A>C MANE Select	NP_002103.2:p.Pro619=
NM_001306146.2:c.1758A>C	NP_001293075.1:p.Pro586=