Canonical Allele Identifier: CA392377200

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534719T>C (hg19) ; chr15:g.50242522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242522T>C , CM000677.2:g.50242522T>C	GRCh38
NC_000015.9:g.50534719T>C , CM000677.1:g.50534719T>C	GRCh37
NC_000015.8:g.48322011T>C	NCBI36
NG_027487.1:g.28444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1727A>G MANE Select	ENSP00000267845.3:p.Gln576Arg
ENST00000267845.7:c.1727A>G	ENSP00000267845.3:p.Gln576Arg
ENST00000543581.5:c.1628A>G	ENSP00000440252.1:p.Gln543Arg
ENST00000559816.1:n.1471A>G
NM_001306146.1:c.1628A>G	NP_001293075.1:p.Gln543Arg
NM_002112.3:c.1727A>G	NP_002103.2:p.Gln576Arg
XM_011521479.1:c.1490A>G	XP_011519781.1:p.Gln497Arg
XM_011521480.1:c.1295A>G	XP_011519782.1:p.Gln432Arg
XM_017022094.1:c.1832A>G	XP_016877583.1:p.Gln611Arg
XM_017022095.1:c.1733A>G	XP_016877584.1:p.Gln578Arg
XM_017022096.1:c.1604A>G	XP_016877585.1:p.Gln535Arg
XM_017022097.1:c.1595A>G	XP_016877586.1:p.Gln532Arg
XM_017022098.1:c.1400A>G	XP_016877587.1:p.Gln467Arg
NM_002112.4:c.1727A>G MANE Select	NP_002103.2:p.Gln576Arg
NM_001306146.2:c.1628A>G	NP_001293075.1:p.Gln543Arg