Canonical Allele Identifier: CA490313934

Gene: HDC

Linked Data

• gnomAD v4: 15-50242350-G-T
• MyVariant Identifiers: chr15:g.50534547G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242350G>T , CM000677.2:g.50242350G>T	GRCh38
NC_000015.9:g.50534547G>T , CM000677.1:g.50534547G>T	GRCh37
NC_000015.8:g.48321839G>T	NCBI36
NG_027487.1:g.28616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1899C>A MANE Select	ENSP00000267845.3:p.Leu633=
ENST00000267845.7:c.1899C>A	ENSP00000267845.3:p.Leu633=
ENST00000543581.5:c.1800C>A	ENSP00000440252.1:p.Leu600=
ENST00000559816.1:n.1643C>A
NM_001306146.1:c.1800C>A	NP_001293075.1:p.Leu600=
NM_002112.3:c.1899C>A	NP_002103.2:p.Leu633=
XM_011521479.1:c.1662C>A	XP_011519781.1:p.Leu554=
XM_011521480.1:c.1467C>A	XP_011519782.1:p.Leu489=
XM_017022094.1:c.2004C>A	XP_016877583.1:p.Leu668=
XM_017022095.1:c.1905C>A	XP_016877584.1:p.Leu635=
XM_017022096.1:c.1776C>A	XP_016877585.1:p.Leu592=
XM_017022097.1:c.1767C>A	XP_016877586.1:p.Leu589=
XM_017022098.1:c.1572C>A	XP_016877587.1:p.Leu524=
NM_002112.4:c.1899C>A MANE Select	NP_002103.2:p.Leu633=
NM_001306146.2:c.1800C>A	NP_001293075.1:p.Leu600=