Canonical Allele Identifier: CA2176326552

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242334C= , CM000677.2:g.50242334C=	GRCh38
NC_000015.9:g.50534531C= , CM000677.1:g.50534531C=	GRCh37
NC_000015.8:g.48321823C=	NCBI36
NG_027487.1:g.28632G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1915G= MANE Select	ENSP00000267845.3:p.Val639=
ENST00000267845.7:c.1915G=	ENSP00000267845.3:p.Val639=
ENST00000543581.5:c.1816G=	ENSP00000440252.1:p.Val606=
ENST00000559816.1:n.1659G=
NM_001306146.1:c.1816G=	NP_001293075.1:p.Val606=
NM_002112.3:c.1915G=	NP_002103.2:p.Val639=
XM_011521479.1:c.1678G=	XP_011519781.1:p.Val560=
XM_011521480.1:c.1483G=	XP_011519782.1:p.Val495=
XM_017022094.1:c.2020G=	XP_016877583.1:p.Val674=
XM_017022095.1:c.1921G=	XP_016877584.1:p.Val641=
XM_017022096.1:c.1792G=	XP_016877585.1:p.Val598=
XM_017022097.1:c.1783G=	XP_016877586.1:p.Val595=
XM_017022098.1:c.1588G=	XP_016877587.1:p.Val530=
NM_002112.4:c.1915G= MANE Select	NP_002103.2:p.Val639=
NM_001306146.2:c.1816G=	NP_001293075.1:p.Val606=