Canonical Allele Identifier: CA2176326569

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242375A= , CM000677.2:g.50242375A=	GRCh38
NC_000015.9:g.50534572A= , CM000677.1:g.50534572A=	GRCh37
NC_000015.8:g.48321864A=	NCBI36
NG_027487.1:g.28591T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1874T= MANE Select	ENSP00000267845.3:p.Leu625=
ENST00000267845.7:c.1874T=	ENSP00000267845.3:p.Leu625=
ENST00000543581.5:c.1775T=	ENSP00000440252.1:p.Leu592=
ENST00000559816.1:n.1618T=
NM_001306146.1:c.1775T=	NP_001293075.1:p.Leu592=
NM_002112.3:c.1874T=	NP_002103.2:p.Leu625=
XM_011521479.1:c.1637T=	XP_011519781.1:p.Leu546=
XM_011521480.1:c.1442T=	XP_011519782.1:p.Leu481=
XM_017022094.1:c.1979T=	XP_016877583.1:p.Leu660=
XM_017022095.1:c.1880T=	XP_016877584.1:p.Leu627=
XM_017022096.1:c.1751T=	XP_016877585.1:p.Leu584=
XM_017022097.1:c.1742T=	XP_016877586.1:p.Leu581=
XM_017022098.1:c.1547T=	XP_016877587.1:p.Leu516=
NM_002112.4:c.1874T= MANE Select	NP_002103.2:p.Leu625=
NM_001306146.2:c.1775T=	NP_001293075.1:p.Leu592=