Canonical Allele Identifier: CA490314224

Gene: HDC

Linked Data

• dbSNP Id: rs2045411362
• gnomAD v4: 15-50242554-C-A
• MyVariant Identifiers: chr15:g.50534751C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242554C>A , CM000677.2:g.50242554C>A	GRCh38
NC_000015.9:g.50534751C>A , CM000677.1:g.50534751C>A	GRCh37
NC_000015.8:g.48322043C>A	NCBI36
NG_027487.1:g.28412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1695G>T MANE Select	ENSP00000267845.3:p.Leu565=
ENST00000267845.7:c.1695G>T	ENSP00000267845.3:p.Leu565=
ENST00000543581.5:c.1596G>T	ENSP00000440252.1:p.Leu532=
ENST00000559816.1:n.1439G>T
NM_001306146.1:c.1596G>T	NP_001293075.1:p.Leu532=
NM_002112.3:c.1695G>T	NP_002103.2:p.Leu565=
XM_011521479.1:c.1458G>T	XP_011519781.1:p.Leu486=
XM_011521480.1:c.1263G>T	XP_011519782.1:p.Leu421=
XM_017022094.1:c.1800G>T	XP_016877583.1:p.Leu600=
XM_017022095.1:c.1701G>T	XP_016877584.1:p.Leu567=
XM_017022096.1:c.1572G>T	XP_016877585.1:p.Leu524=
XM_017022097.1:c.1563G>T	XP_016877586.1:p.Leu521=
XM_017022098.1:c.1368G>T	XP_016877587.1:p.Leu456=
NM_002112.4:c.1695G>T MANE Select	NP_002103.2:p.Leu565=
NM_001306146.2:c.1596G>T	NP_001293075.1:p.Leu532=