Canonical Allele Identifier: CA490313906

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534526G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242329G>A , CM000677.2:g.50242329G>A	GRCh38
NC_000015.9:g.50534526G>A , CM000677.1:g.50534526G>A	GRCh37
NC_000015.8:g.48321818G>A	NCBI36
NG_027487.1:g.28637C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.1920C>T MANE Select	ENSP00000267845.3:p.Pro640=
ENST00000267845.7:c.1920C>T	ENSP00000267845.3:p.Pro640=
ENST00000543581.5:c.1821C>T	ENSP00000440252.1:p.Pro607=
ENST00000559816.1:n.1664C>T
NM_001306146.1:c.1821C>T	NP_001293075.1:p.Pro607=
NM_002112.3:c.1920C>T	NP_002103.2:p.Pro640=
XM_011521479.1:c.1683C>T	XP_011519781.1:p.Pro561=
XM_011521480.1:c.1488C>T	XP_011519782.1:p.Pro496=
XM_017022094.1:c.2025C>T	XP_016877583.1:p.Pro675=
XM_017022095.1:c.1926C>T	XP_016877584.1:p.Pro642=
XM_017022096.1:c.1797C>T	XP_016877585.1:p.Pro599=
XM_017022097.1:c.1788C>T	XP_016877586.1:p.Pro596=
XM_017022098.1:c.1593C>T	XP_016877587.1:p.Pro531=
NM_002112.4:c.1920C>T MANE Select	NP_002103.2:p.Pro640=
NM_001306146.2:c.1821C>T	NP_001293075.1:p.Pro607=