Canonical Allele Identifier: CA392376843

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534553T>G (hg19) ; chr15:g.50242356T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242356T>G , CM000677.2:g.50242356T>G	GRCh38
NC_000015.9:g.50534553T>G , CM000677.1:g.50534553T>G	GRCh37
NC_000015.8:g.48321845T>G	NCBI36
NG_027487.1:g.28610A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1893A>C MANE Select	ENSP00000267845.3:p.Lys631Asn
ENST00000267845.7:c.1893A>C	ENSP00000267845.3:p.Lys631Asn
ENST00000543581.5:c.1794A>C	ENSP00000440252.1:p.Lys598Asn
ENST00000559816.1:n.1637A>C
NM_001306146.1:c.1794A>C	NP_001293075.1:p.Lys598Asn
NM_002112.3:c.1893A>C	NP_002103.2:p.Lys631Asn
XM_011521479.1:c.1656A>C	XP_011519781.1:p.Lys552Asn
XM_011521480.1:c.1461A>C	XP_011519782.1:p.Lys487Asn
XM_017022094.1:c.1998A>C	XP_016877583.1:p.Lys666Asn
XM_017022095.1:c.1899A>C	XP_016877584.1:p.Lys633Asn
XM_017022096.1:c.1770A>C	XP_016877585.1:p.Lys590Asn
XM_017022097.1:c.1761A>C	XP_016877586.1:p.Lys587Asn
XM_017022098.1:c.1566A>C	XP_016877587.1:p.Lys522Asn
NM_002112.4:c.1893A>C MANE Select	NP_002103.2:p.Lys631Asn
NM_001306146.2:c.1794A>C	NP_001293075.1:p.Lys598Asn