Canonical Allele Identifier: CA490314232

Gene: HDC

Linked Data

• gnomAD v4: 15-50242560-G-A
• MyVariant Identifiers: chr15:g.50534757G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242560G>A , CM000677.2:g.50242560G>A	GRCh38
NC_000015.9:g.50534757G>A , CM000677.1:g.50534757G>A	GRCh37
NC_000015.8:g.48322049G>A	NCBI36
NG_027487.1:g.28406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1689C>T MANE Select	ENSP00000267845.3:p.His563=
ENST00000267845.7:c.1689C>T	ENSP00000267845.3:p.His563=
ENST00000543581.5:c.1590C>T	ENSP00000440252.1:p.His530=
ENST00000559816.1:n.1433C>T
NM_001306146.1:c.1590C>T	NP_001293075.1:p.His530=
NM_002112.3:c.1689C>T	NP_002103.2:p.His563=
XM_011521479.1:c.1452C>T	XP_011519781.1:p.His484=
XM_011521480.1:c.1257C>T	XP_011519782.1:p.His419=
XM_017022094.1:c.1794C>T	XP_016877583.1:p.His598=
XM_017022095.1:c.1695C>T	XP_016877584.1:p.His565=
XM_017022096.1:c.1566C>T	XP_016877585.1:p.His522=
XM_017022097.1:c.1557C>T	XP_016877586.1:p.His519=
XM_017022098.1:c.1362C>T	XP_016877587.1:p.His454=
NM_002112.4:c.1689C>T MANE Select	NP_002103.2:p.His563=
NM_001306146.2:c.1590C>T	NP_001293075.1:p.His530=