Canonical Allele Identifier: CA2176326657

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242592A= , CM000677.2:g.50242592A=	GRCh38
NC_000015.9:g.50534789A= , CM000677.1:g.50534789A=	GRCh37
NC_000015.8:g.48322081A=	NCBI36
NG_027487.1:g.28374T=

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.1657T= MANE Select	NP_002103.2:p.Phe553=
ENST00000267845.8:c.1657T= MANE Select	ENSP00000267845.3:p.Phe553=
NM_001306146.1:c.1558T=	NP_001293075.1:p.Phe520=
NM_001306146.2:c.1558T=	NP_001293075.1:p.Phe520=
NM_002112.3:c.1657T=	NP_002103.2:p.Phe553=
ENST00000267845.7:c.1657T=	ENSP00000267845.3:p.Phe553=
ENST00000543581.5:c.1558T=	ENSP00000440252.1:p.Phe520=
ENST00000559816.1:n.1401T=
XM_011521479.1:c.1420T=	XP_011519781.1:p.Phe474=
XM_011521480.1:c.1225T=	XP_011519782.1:p.Phe409=
XM_017022094.1:c.1762T=	XP_016877583.1:p.Phe588=
XM_017022095.1:c.1663T=	XP_016877584.1:p.Phe555=
XM_017022096.1:c.1534T=	XP_016877585.1:p.Phe512=
XM_017022097.1:c.1525T=	XP_016877586.1:p.Phe509=
XM_017022098.1:c.1330T=	XP_016877587.1:p.Phe444=