Canonical Allele Identifier: CA2176326607

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242471C= , CM000677.2:g.50242471C=	GRCh38
NC_000015.9:g.50534668C= , CM000677.1:g.50534668C=	GRCh37
NC_000015.8:g.48321960C=	NCBI36
NG_027487.1:g.28495G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1778G= MANE Select	ENSP00000267845.3:p.Ser593=
ENST00000267845.7:c.1778G=	ENSP00000267845.3:p.Ser593=
ENST00000543581.5:c.1679G=	ENSP00000440252.1:p.Ser560=
ENST00000559816.1:n.1522G=
NM_001306146.1:c.1679G=	NP_001293075.1:p.Ser560=
NM_002112.3:c.1778G=	NP_002103.2:p.Ser593=
XM_011521479.1:c.1541G=	XP_011519781.1:p.Ser514=
XM_011521480.1:c.1346G=	XP_011519782.1:p.Ser449=
XM_017022094.1:c.1883G=	XP_016877583.1:p.Ser628=
XM_017022095.1:c.1784G=	XP_016877584.1:p.Ser595=
XM_017022096.1:c.1655G=	XP_016877585.1:p.Ser552=
XM_017022097.1:c.1646G=	XP_016877586.1:p.Ser549=
XM_017022098.1:c.1451G=	XP_016877587.1:p.Ser484=
NM_002112.4:c.1778G= MANE Select	NP_002103.2:p.Ser593=
NM_001306146.2:c.1679G=	NP_001293075.1:p.Ser560=