Canonical Allele Identifier: CA2176326566

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242370T= , CM000677.2:g.50242370T=	GRCh38
NC_000015.9:g.50534567T= , CM000677.1:g.50534567T=	GRCh37
NC_000015.8:g.48321859T=	NCBI36
NG_027487.1:g.28596A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1879A= MANE Select	ENSP00000267845.3:p.Lys627=
ENST00000267845.7:c.1879A=	ENSP00000267845.3:p.Lys627=
ENST00000543581.5:c.1780A=	ENSP00000440252.1:p.Lys594=
ENST00000559816.1:n.1623A=
NM_001306146.1:c.1780A=	NP_001293075.1:p.Lys594=
NM_002112.3:c.1879A=	NP_002103.2:p.Lys627=
XM_011521479.1:c.1642A=	XP_011519781.1:p.Lys548=
XM_011521480.1:c.1447A=	XP_011519782.1:p.Lys483=
XM_017022094.1:c.1984A=	XP_016877583.1:p.Lys662=
XM_017022095.1:c.1885A=	XP_016877584.1:p.Lys629=
XM_017022096.1:c.1756A=	XP_016877585.1:p.Lys586=
XM_017022097.1:c.1747A=	XP_016877586.1:p.Lys583=
XM_017022098.1:c.1552A=	XP_016877587.1:p.Lys518=
NM_002112.4:c.1879A= MANE Select	NP_002103.2:p.Lys627=
NM_001306146.2:c.1780A=	NP_001293075.1:p.Lys594=