Canonical Allele Identifier: CA2176326624

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242510T= , CM000677.2:g.50242510T=	GRCh38
NC_000015.9:g.50534707T= , CM000677.1:g.50534707T=	GRCh37
NC_000015.8:g.48321999T=	NCBI36
NG_027487.1:g.28456A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1739A= MANE Select	ENSP00000267845.3:p.Lys580=
ENST00000267845.7:c.1739A=	ENSP00000267845.3:p.Lys580=
ENST00000543581.5:c.1640A=	ENSP00000440252.1:p.Lys547=
ENST00000559816.1:n.1483A=
NM_001306146.1:c.1640A=	NP_001293075.1:p.Lys547=
NM_002112.3:c.1739A=	NP_002103.2:p.Lys580=
XM_011521479.1:c.1502A=	XP_011519781.1:p.Lys501=
XM_011521480.1:c.1307A=	XP_011519782.1:p.Lys436=
XM_017022094.1:c.1844A=	XP_016877583.1:p.Lys615=
XM_017022095.1:c.1745A=	XP_016877584.1:p.Lys582=
XM_017022096.1:c.1616A=	XP_016877585.1:p.Lys539=
XM_017022097.1:c.1607A=	XP_016877586.1:p.Lys536=
XM_017022098.1:c.1412A=	XP_016877587.1:p.Lys471=
NM_002112.4:c.1739A= MANE Select	NP_002103.2:p.Lys580=
NM_001306146.2:c.1640A=	NP_001293075.1:p.Lys547=