Canonical Allele Identifier: CA392377202

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534720G>C (hg19) ; chr15:g.50242523G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242523G>C , CM000677.2:g.50242523G>C	GRCh38
NC_000015.9:g.50534720G>C , CM000677.1:g.50534720G>C	GRCh37
NC_000015.8:g.48322012G>C	NCBI36
NG_027487.1:g.28443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1726C>G MANE Select	ENSP00000267845.3:p.Gln576Glu
ENST00000267845.7:c.1726C>G	ENSP00000267845.3:p.Gln576Glu
ENST00000543581.5:c.1627C>G	ENSP00000440252.1:p.Gln543Glu
ENST00000559816.1:n.1470C>G
NM_001306146.1:c.1627C>G	NP_001293075.1:p.Gln543Glu
NM_002112.3:c.1726C>G	NP_002103.2:p.Gln576Glu
XM_011521479.1:c.1489C>G	XP_011519781.1:p.Gln497Glu
XM_011521480.1:c.1294C>G	XP_011519782.1:p.Gln432Glu
XM_017022094.1:c.1831C>G	XP_016877583.1:p.Gln611Glu
XM_017022095.1:c.1732C>G	XP_016877584.1:p.Gln578Glu
XM_017022096.1:c.1603C>G	XP_016877585.1:p.Gln535Glu
XM_017022097.1:c.1594C>G	XP_016877586.1:p.Gln532Glu
XM_017022098.1:c.1399C>G	XP_016877587.1:p.Gln467Glu
NM_002112.4:c.1726C>G MANE Select	NP_002103.2:p.Gln576Glu
NM_001306146.2:c.1627C>G	NP_001293075.1:p.Gln543Glu