Canonical Allele Identifier: CA392376949

Gene: HDC

Linked Data

• dbSNP Id: rs2045407207
• MyVariant Identifiers: chr15:g.50534597T>C (hg19) ; chr15:g.50242400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242400T>C , CM000677.2:g.50242400T>C	GRCh38
NC_000015.9:g.50534597T>C , CM000677.1:g.50534597T>C	GRCh37
NC_000015.8:g.48321889T>C	NCBI36
NG_027487.1:g.28566A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1849A>G MANE Select	ENSP00000267845.3:p.Arg617Gly
ENST00000267845.7:c.1849A>G	ENSP00000267845.3:p.Arg617Gly
ENST00000543581.5:c.1750A>G	ENSP00000440252.1:p.Arg584Gly
ENST00000559816.1:n.1593A>G
NM_001306146.1:c.1750A>G	NP_001293075.1:p.Arg584Gly
NM_002112.3:c.1849A>G	NP_002103.2:p.Arg617Gly
XM_011521479.1:c.1612A>G	XP_011519781.1:p.Arg538Gly
XM_011521480.1:c.1417A>G	XP_011519782.1:p.Arg473Gly
XM_017022094.1:c.1954A>G	XP_016877583.1:p.Arg652Gly
XM_017022095.1:c.1855A>G	XP_016877584.1:p.Arg619Gly
XM_017022096.1:c.1726A>G	XP_016877585.1:p.Arg576Gly
XM_017022097.1:c.1717A>G	XP_016877586.1:p.Arg573Gly
XM_017022098.1:c.1522A>G	XP_016877587.1:p.Arg508Gly
NM_002112.4:c.1849A>G MANE Select	NP_002103.2:p.Arg617Gly
NM_001306146.2:c.1750A>G	NP_001293075.1:p.Arg584Gly