Canonical Allele Identifier: CA7554499

Gene: HDC

Linked Data

• dbSNP Id: rs752788866
• ExAC: 15:50534693 G / C
• gnomAD v2: 15-50534693-G-C
• gnomAD v3: 15-50242496-G-C
• gnomAD v4: 15-50242496-G-C
• MyVariant Identifiers: chr15:g.50534693G>C (hg19) ; chr15:g.50242496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242496G>C , CM000677.2:g.50242496G>C	GRCh38
NC_000015.9:g.50534693G>C , CM000677.1:g.50534693G>C	GRCh37
NC_000015.8:g.48321985G>C	NCBI36
NG_027487.1:g.28470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1753C>G MANE Select	ENSP00000267845.3:p.Leu585Val
ENST00000267845.7:c.1753C>G	ENSP00000267845.3:p.Leu585Val
ENST00000543581.5:c.1654C>G	ENSP00000440252.1:p.Leu552Val
ENST00000559816.1:n.1497C>G
NM_001306146.1:c.1654C>G	NP_001293075.1:p.Leu552Val
NM_002112.3:c.1753C>G	NP_002103.2:p.Leu585Val
XM_011521479.1:c.1516C>G	XP_011519781.1:p.Leu506Val
XM_011521480.1:c.1321C>G	XP_011519782.1:p.Leu441Val
XM_017022094.1:c.1858C>G	XP_016877583.1:p.Leu620Val
XM_017022095.1:c.1759C>G	XP_016877584.1:p.Leu587Val
XM_017022096.1:c.1630C>G	XP_016877585.1:p.Leu544Val
XM_017022097.1:c.1621C>G	XP_016877586.1:p.Leu541Val
XM_017022098.1:c.1426C>G	XP_016877587.1:p.Leu476Val
NM_002112.4:c.1753C>G MANE Select	NP_002103.2:p.Leu585Val
NM_001306146.2:c.1654C>G	NP_001293075.1:p.Leu552Val