Canonical Allele Identifier: CA392377173

Gene: HDC

Linked Data

• gnomAD v4: 15-50242511-T-C
• MyVariant Identifiers: chr15:g.50534708T>C (hg19) ; chr15:g.50242511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242511T>C , CM000677.2:g.50242511T>C	GRCh38
NC_000015.9:g.50534708T>C , CM000677.1:g.50534708T>C	GRCh37
NC_000015.8:g.48322000T>C	NCBI36
NG_027487.1:g.28455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1738A>G MANE Select	ENSP00000267845.3:p.Lys580Glu
ENST00000267845.7:c.1738A>G	ENSP00000267845.3:p.Lys580Glu
ENST00000543581.5:c.1639A>G	ENSP00000440252.1:p.Lys547Glu
ENST00000559816.1:n.1482A>G
NM_001306146.1:c.1639A>G	NP_001293075.1:p.Lys547Glu
NM_002112.3:c.1738A>G	NP_002103.2:p.Lys580Glu
XM_011521479.1:c.1501A>G	XP_011519781.1:p.Lys501Glu
XM_011521480.1:c.1306A>G	XP_011519782.1:p.Lys436Glu
XM_017022094.1:c.1843A>G	XP_016877583.1:p.Lys615Glu
XM_017022095.1:c.1744A>G	XP_016877584.1:p.Lys582Glu
XM_017022096.1:c.1615A>G	XP_016877585.1:p.Lys539Glu
XM_017022097.1:c.1606A>G	XP_016877586.1:p.Lys536Glu
XM_017022098.1:c.1411A>G	XP_016877587.1:p.Lys471Glu
NM_002112.4:c.1738A>G MANE Select	NP_002103.2:p.Lys580Glu
NM_001306146.2:c.1639A>G	NP_001293075.1:p.Lys547Glu