Canonical Allele Identifier: CA2176326603

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242461C= , CM000677.2:g.50242461C=	GRCh38
NC_000015.9:g.50534658C= , CM000677.1:g.50534658C=	GRCh37
NC_000015.8:g.48321950C=	NCBI36
NG_027487.1:g.28505G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1788G= MANE Select	ENSP00000267845.3:p.Lys596=
ENST00000267845.7:c.1788G=	ENSP00000267845.3:p.Lys596=
ENST00000543581.5:c.1689G=	ENSP00000440252.1:p.Lys563=
ENST00000559816.1:n.1532G=
NM_001306146.1:c.1689G=	NP_001293075.1:p.Lys563=
NM_002112.3:c.1788G=	NP_002103.2:p.Lys596=
XM_011521479.1:c.1551G=	XP_011519781.1:p.Lys517=
XM_011521480.1:c.1356G=	XP_011519782.1:p.Lys452=
XM_017022094.1:c.1893G=	XP_016877583.1:p.Lys631=
XM_017022095.1:c.1794G=	XP_016877584.1:p.Lys598=
XM_017022096.1:c.1665G=	XP_016877585.1:p.Lys555=
XM_017022097.1:c.1656G=	XP_016877586.1:p.Lys552=
XM_017022098.1:c.1461G=	XP_016877587.1:p.Lys487=
NM_002112.4:c.1788G= MANE Select	NP_002103.2:p.Lys596=
NM_001306146.2:c.1689G=	NP_001293075.1:p.Lys563=