Canonical Allele Identifier: CA490314231

Gene: HDC

Linked Data

• gnomAD v4: 15-50242557-C-T
• MyVariant Identifiers: chr15:g.50534754C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242557C>T , CM000677.2:g.50242557C>T	GRCh38
NC_000015.9:g.50534754C>T , CM000677.1:g.50534754C>T	GRCh37
NC_000015.8:g.48322046C>T	NCBI36
NG_027487.1:g.28409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1692G>A MANE Select	ENSP00000267845.3:p.Lys564=
ENST00000267845.7:c.1692G>A	ENSP00000267845.3:p.Lys564=
ENST00000543581.5:c.1593G>A	ENSP00000440252.1:p.Lys531=
ENST00000559816.1:n.1436G>A
NM_001306146.1:c.1593G>A	NP_001293075.1:p.Lys531=
NM_002112.3:c.1692G>A	NP_002103.2:p.Lys564=
XM_011521479.1:c.1455G>A	XP_011519781.1:p.Lys485=
XM_011521480.1:c.1260G>A	XP_011519782.1:p.Lys420=
XM_017022094.1:c.1797G>A	XP_016877583.1:p.Lys599=
XM_017022095.1:c.1698G>A	XP_016877584.1:p.Lys566=
XM_017022096.1:c.1569G>A	XP_016877585.1:p.Lys523=
XM_017022097.1:c.1560G>A	XP_016877586.1:p.Lys520=
XM_017022098.1:c.1365G>A	XP_016877587.1:p.Lys455=
NM_002112.4:c.1692G>A MANE Select	NP_002103.2:p.Lys564=
NM_001306146.2:c.1593G>A	NP_001293075.1:p.Lys531=