Canonical Allele Identifier: CA490313894

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534517A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242320A>T , CM000677.2:g.50242320A>T	GRCh38
NC_000015.9:g.50534517A>T , CM000677.1:g.50534517A>T	GRCh37
NC_000015.8:g.48321809A>T	NCBI36
NG_027487.1:g.28646T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1929T>A MANE Select	ENSP00000267845.3:p.Pro643=
ENST00000267845.7:c.1929T>A	ENSP00000267845.3:p.Pro643=
ENST00000543581.5:c.1830T>A	ENSP00000440252.1:p.Pro610=
ENST00000559816.1:n.1673T>A
NM_001306146.1:c.1830T>A	NP_001293075.1:p.Pro610=
NM_002112.3:c.1929T>A	NP_002103.2:p.Pro643=
XM_011521479.1:c.1692T>A	XP_011519781.1:p.Pro564=
XM_011521480.1:c.1497T>A	XP_011519782.1:p.Pro499=
XM_017022094.1:c.2034T>A	XP_016877583.1:p.Pro678=
XM_017022095.1:c.1935T>A	XP_016877584.1:p.Pro645=
XM_017022096.1:c.1806T>A	XP_016877585.1:p.Pro602=
XM_017022097.1:c.1797T>A	XP_016877586.1:p.Pro599=
XM_017022098.1:c.1602T>A	XP_016877587.1:p.Pro534=
NM_002112.4:c.1929T>A MANE Select	NP_002103.2:p.Pro643=
NM_001306146.2:c.1830T>A	NP_001293075.1:p.Pro610=