Canonical Allele Identifier: CA490314146

Gene: HDC

Linked Data

• dbSNP Id: rs2045409135
• gnomAD v3: 15-50242494-G-A
• gnomAD v4: 15-50242494-G-A
• MyVariant Identifiers: chr15:g.50534691G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242494G>A , CM000677.2:g.50242494G>A	GRCh38
NC_000015.9:g.50534691G>A , CM000677.1:g.50534691G>A	GRCh37
NC_000015.8:g.48321983G>A	NCBI36
NG_027487.1:g.28472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1755C>T MANE Select	ENSP00000267845.3:p.Leu585=
ENST00000267845.7:c.1755C>T	ENSP00000267845.3:p.Leu585=
ENST00000543581.5:c.1656C>T	ENSP00000440252.1:p.Leu552=
ENST00000559816.1:n.1499C>T
NM_001306146.1:c.1656C>T	NP_001293075.1:p.Leu552=
NM_002112.3:c.1755C>T	NP_002103.2:p.Leu585=
XM_011521479.1:c.1518C>T	XP_011519781.1:p.Leu506=
XM_011521480.1:c.1323C>T	XP_011519782.1:p.Leu441=
XM_017022094.1:c.1860C>T	XP_016877583.1:p.Leu620=
XM_017022095.1:c.1761C>T	XP_016877584.1:p.Leu587=
XM_017022096.1:c.1632C>T	XP_016877585.1:p.Leu544=
XM_017022097.1:c.1623C>T	XP_016877586.1:p.Leu541=
XM_017022098.1:c.1428C>T	XP_016877587.1:p.Leu476=
NM_002112.4:c.1755C>T MANE Select	NP_002103.2:p.Leu585=
NM_001306146.2:c.1656C>T	NP_001293075.1:p.Leu552=