Canonical Allele Identifier: CA490313927

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534541T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242344T>C , CM000677.2:g.50242344T>C	GRCh38
NC_000015.9:g.50534541T>C , CM000677.1:g.50534541T>C	GRCh37
NC_000015.8:g.48321833T>C	NCBI36
NG_027487.1:g.28622A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1905A>G MANE Select	ENSP00000267845.3:p.Lys635=
ENST00000267845.7:c.1905A>G	ENSP00000267845.3:p.Lys635=
ENST00000543581.5:c.1806A>G	ENSP00000440252.1:p.Lys602=
ENST00000559816.1:n.1649A>G
NM_001306146.1:c.1806A>G	NP_001293075.1:p.Lys602=
NM_002112.3:c.1905A>G	NP_002103.2:p.Lys635=
XM_011521479.1:c.1668A>G	XP_011519781.1:p.Lys556=
XM_011521480.1:c.1473A>G	XP_011519782.1:p.Lys491=
XM_017022094.1:c.2010A>G	XP_016877583.1:p.Lys670=
XM_017022095.1:c.1911A>G	XP_016877584.1:p.Lys637=
XM_017022096.1:c.1782A>G	XP_016877585.1:p.Lys594=
XM_017022097.1:c.1773A>G	XP_016877586.1:p.Lys591=
XM_017022098.1:c.1578A>G	XP_016877587.1:p.Lys526=
NM_002112.4:c.1905A>G MANE Select	NP_002103.2:p.Lys635=
NM_001306146.2:c.1806A>G	NP_001293075.1:p.Lys602=