Canonical Allele Identifier: CA7554959

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50263290T>G , CM000677.2:g.50263290T>G	GRCh38
NC_000015.9:g.50555487T>G , CM000677.1:g.50555487T>G	GRCh37
NC_000015.8:g.48342779T>G	NCBI36
NG_027487.1:g.7676A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.149A>C MANE Select	NP_002103.2:p.Asp50Ala
ENST00000267845.8:c.149A>C MANE Select	ENSP00000267845.3:p.Asp50Ala
NM_001306146.1:c.149A>C	NP_001293075.1:p.Asp50Ala
NM_001306146.2:c.149A>C	NP_001293075.1:p.Asp50Ala
NM_002112.3:c.149A>C	NP_002103.2:p.Asp50Ala
ENST00000267845.7:c.149A>C	ENSP00000267845.3:p.Asp50Ala
ENST00000543581.5:c.149A>C	ENSP00000440252.1:p.Asp50Ala
ENST00000558679.1:n.491A>C
ENST00000558761.5:n.252A>C
ENST00000559190.5:n.26A>C
ENST00000559683.1:c.131A>C	ENSP00000453183.1:p.Asp44Ala
XM_011521479.1:c.149A>C	XP_011519781.1:p.Asp50Ala
XM_011521481.1:c.149A>C	XP_011519783.1:p.Asp50Ala
XM_017022094.1:c.149A>C	XP_016877583.1:p.Asp50Ala
XM_017022095.1:c.149A>C	XP_016877584.1:p.Asp50Ala
XM_017022097.1:c.149A>C	XP_016877586.1:p.Asp50Ala
XM_017022099.1:c.149A>C	XP_016877588.1:p.Asp50Ala