Canonical Allele Identifier: CA490314011

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534609T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242412T>G , CM000677.2:g.50242412T>G	GRCh38
NC_000015.9:g.50534609T>G , CM000677.1:g.50534609T>G	GRCh37
NC_000015.8:g.48321901T>G	NCBI36
NG_027487.1:g.28554A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1837A>C MANE Select	ENSP00000267845.3:p.Arg613=
ENST00000267845.7:c.1837A>C	ENSP00000267845.3:p.Arg613=
ENST00000543581.5:c.1738A>C	ENSP00000440252.1:p.Arg580=
ENST00000559816.1:n.1581A>C
NM_001306146.1:c.1738A>C	NP_001293075.1:p.Arg580=
NM_002112.3:c.1837A>C	NP_002103.2:p.Arg613=
XM_011521479.1:c.1600A>C	XP_011519781.1:p.Arg534=
XM_011521480.1:c.1405A>C	XP_011519782.1:p.Arg469=
XM_017022094.1:c.1942A>C	XP_016877583.1:p.Arg648=
XM_017022095.1:c.1843A>C	XP_016877584.1:p.Arg615=
XM_017022096.1:c.1714A>C	XP_016877585.1:p.Arg572=
XM_017022097.1:c.1705A>C	XP_016877586.1:p.Arg569=
XM_017022098.1:c.1510A>C	XP_016877587.1:p.Arg504=
NM_002112.4:c.1837A>C MANE Select	NP_002103.2:p.Arg613=
NM_001306146.2:c.1738A>C	NP_001293075.1:p.Arg580=