Canonical Allele Identifier: CA2176326592

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242431A= , CM000677.2:g.50242431A=	GRCh38
NC_000015.9:g.50534628A= , CM000677.1:g.50534628A=	GRCh37
NC_000015.8:g.48321920A=	NCBI36
NG_027487.1:g.28535T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1818T= MANE Select	ENSP00000267845.3:p.Asn606=
ENST00000267845.7:c.1818T=	ENSP00000267845.3:p.Asn606=
ENST00000543581.5:c.1719T=	ENSP00000440252.1:p.Asn573=
ENST00000559816.1:n.1562T=
NM_001306146.1:c.1719T=	NP_001293075.1:p.Asn573=
NM_002112.3:c.1818T=	NP_002103.2:p.Asn606=
XM_011521479.1:c.1581T=	XP_011519781.1:p.Asn527=
XM_011521480.1:c.1386T=	XP_011519782.1:p.Asn462=
XM_017022094.1:c.1923T=	XP_016877583.1:p.Asn641=
XM_017022095.1:c.1824T=	XP_016877584.1:p.Asn608=
XM_017022096.1:c.1695T=	XP_016877585.1:p.Asn565=
XM_017022097.1:c.1686T=	XP_016877586.1:p.Asn562=
XM_017022098.1:c.1491T=	XP_016877587.1:p.Asn497=
NM_002112.4:c.1818T= MANE Select	NP_002103.2:p.Asn606=
NM_001306146.2:c.1719T=	NP_001293075.1:p.Asn573=