Canonical Allele Identifier: CA490314097

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534655T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242458T>G , CM000677.2:g.50242458T>G	GRCh38
NC_000015.9:g.50534655T>G , CM000677.1:g.50534655T>G	GRCh37
NC_000015.8:g.48321947T>G	NCBI36
NG_027487.1:g.28508A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1791A>C MANE Select	ENSP00000267845.3:p.Pro597=
ENST00000267845.7:c.1791A>C	ENSP00000267845.3:p.Pro597=
ENST00000543581.5:c.1692A>C	ENSP00000440252.1:p.Pro564=
ENST00000559816.1:n.1535A>C
NM_001306146.1:c.1692A>C	NP_001293075.1:p.Pro564=
NM_002112.3:c.1791A>C	NP_002103.2:p.Pro597=
XM_011521479.1:c.1554A>C	XP_011519781.1:p.Pro518=
XM_011521480.1:c.1359A>C	XP_011519782.1:p.Pro453=
XM_017022094.1:c.1896A>C	XP_016877583.1:p.Pro632=
XM_017022095.1:c.1797A>C	XP_016877584.1:p.Pro599=
XM_017022096.1:c.1668A>C	XP_016877585.1:p.Pro556=
XM_017022097.1:c.1659A>C	XP_016877586.1:p.Pro553=
XM_017022098.1:c.1464A>C	XP_016877587.1:p.Pro488=
NM_002112.4:c.1791A>C MANE Select	NP_002103.2:p.Pro597=
NM_001306146.2:c.1692A>C	NP_001293075.1:p.Pro564=