Canonical Allele Identifier: CA2176326633

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242543A= , CM000677.2:g.50242543A=	GRCh38
NC_000015.9:g.50534740A= , CM000677.1:g.50534740A=	GRCh37
NC_000015.8:g.48322032A=	NCBI36
NG_027487.1:g.28423T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1706T= MANE Select	ENSP00000267845.3:p.Leu569=
ENST00000267845.7:c.1706T=	ENSP00000267845.3:p.Leu569=
ENST00000543581.5:c.1607T=	ENSP00000440252.1:p.Leu536=
ENST00000559816.1:n.1450T=
NM_001306146.1:c.1607T=	NP_001293075.1:p.Leu536=
NM_002112.3:c.1706T=	NP_002103.2:p.Leu569=
XM_011521479.1:c.1469T=	XP_011519781.1:p.Leu490=
XM_011521480.1:c.1274T=	XP_011519782.1:p.Leu425=
XM_017022094.1:c.1811T=	XP_016877583.1:p.Leu604=
XM_017022095.1:c.1712T=	XP_016877584.1:p.Leu571=
XM_017022096.1:c.1583T=	XP_016877585.1:p.Leu528=
XM_017022097.1:c.1574T=	XP_016877586.1:p.Leu525=
XM_017022098.1:c.1379T=	XP_016877587.1:p.Leu460=
NM_002112.4:c.1706T= MANE Select	NP_002103.2:p.Leu569=
NM_001306146.2:c.1607T=	NP_001293075.1:p.Leu536=