Canonical Allele Identifier: CA392376467

Gene: HDC

Linked Data

• dbSNP Id: rs2045404240
• MyVariant Identifiers: chr15:g.50534498C>T (hg19) ; chr15:g.50242301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242301C>T , CM000677.2:g.50242301C>T	GRCh38
NC_000015.9:g.50534498C>T , CM000677.1:g.50534498C>T	GRCh37
NC_000015.8:g.48321790C>T	NCBI36
NG_027487.1:g.28665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1948G>A MANE Select	ENSP00000267845.3:p.Gly650Arg
ENST00000267845.7:c.1948G>A	ENSP00000267845.3:p.Gly650Arg
ENST00000543581.5:c.1849G>A	ENSP00000440252.1:p.Gly617Arg
ENST00000559816.1:n.1692G>A
NM_001306146.1:c.1849G>A	NP_001293075.1:p.Gly617Arg
NM_002112.3:c.1948G>A	NP_002103.2:p.Gly650Arg
XM_011521479.1:c.1711G>A	XP_011519781.1:p.Gly571Arg
XM_011521480.1:c.1516G>A	XP_011519782.1:p.Gly506Arg
XM_017022094.1:c.2053G>A	XP_016877583.1:p.Gly685Arg
XM_017022095.1:c.1954G>A	XP_016877584.1:p.Gly652Arg
XM_017022096.1:c.1825G>A	XP_016877585.1:p.Gly609Arg
XM_017022097.1:c.1816G>A	XP_016877586.1:p.Gly606Arg
XM_017022098.1:c.1621G>A	XP_016877587.1:p.Gly541Arg
NM_002112.4:c.1948G>A MANE Select	NP_002103.2:p.Gly650Arg
NM_001306146.2:c.1849G>A	NP_001293075.1:p.Gly617Arg