Canonical Allele Identifier: CA392376948

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534597T>A (hg19) ; chr15:g.50242400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242400T>A , CM000677.2:g.50242400T>A	GRCh38
NC_000015.9:g.50534597T>A , CM000677.1:g.50534597T>A	GRCh37
NC_000015.8:g.48321889T>A	NCBI36
NG_027487.1:g.28566A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1849A>T MANE Select	ENSP00000267845.3:p.Arg617Trp
ENST00000267845.7:c.1849A>T	ENSP00000267845.3:p.Arg617Trp
ENST00000543581.5:c.1750A>T	ENSP00000440252.1:p.Arg584Trp
ENST00000559816.1:n.1593A>T
NM_001306146.1:c.1750A>T	NP_001293075.1:p.Arg584Trp
NM_002112.3:c.1849A>T	NP_002103.2:p.Arg617Trp
XM_011521479.1:c.1612A>T	XP_011519781.1:p.Arg538Trp
XM_011521480.1:c.1417A>T	XP_011519782.1:p.Arg473Trp
XM_017022094.1:c.1954A>T	XP_016877583.1:p.Arg652Trp
XM_017022095.1:c.1855A>T	XP_016877584.1:p.Arg619Trp
XM_017022096.1:c.1726A>T	XP_016877585.1:p.Arg576Trp
XM_017022097.1:c.1717A>T	XP_016877586.1:p.Arg573Trp
XM_017022098.1:c.1522A>T	XP_016877587.1:p.Arg508Trp
NM_002112.4:c.1849A>T MANE Select	NP_002103.2:p.Arg617Trp
NM_001306146.2:c.1750A>T	NP_001293075.1:p.Arg584Trp