Canonical Allele Identifier: CA392377174

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534708T>G (hg19) ; chr15:g.50242511T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1738A>C MANE Select	ENSP00000267845.3:p.Lys580Gln
ENST00000267845.7:c.1738A>C	ENSP00000267845.3:p.Lys580Gln
ENST00000543581.5:c.1639A>C	ENSP00000440252.1:p.Lys547Gln
ENST00000559816.1:n.1482A>C
NM_001306146.1:c.1639A>C	NP_001293075.1:p.Lys547Gln
NM_002112.3:c.1738A>C	NP_002103.2:p.Lys580Gln
XM_011521479.1:c.1501A>C	XP_011519781.1:p.Lys501Gln
XM_011521480.1:c.1306A>C	XP_011519782.1:p.Lys436Gln
XM_017022094.1:c.1843A>C	XP_016877583.1:p.Lys615Gln
XM_017022095.1:c.1744A>C	XP_016877584.1:p.Lys582Gln
XM_017022096.1:c.1615A>C	XP_016877585.1:p.Lys539Gln
XM_017022097.1:c.1606A>C	XP_016877586.1:p.Lys536Gln
XM_017022098.1:c.1411A>C	XP_016877587.1:p.Lys471Gln
NM_002112.4:c.1738A>C MANE Select	NP_002103.2:p.Lys580Gln
NM_001306146.2:c.1639A>C	NP_001293075.1:p.Lys547Gln