Canonical Allele Identifier: CA392376455

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534492G>C (hg19) ; chr15:g.50242295G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242295G>C , CM000677.2:g.50242295G>C	GRCh38
NC_000015.9:g.50534492G>C , CM000677.1:g.50534492G>C	GRCh37
NC_000015.8:g.48321784G>C	NCBI36
NG_027487.1:g.28671C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1954C>G MANE Select	ENSP00000267845.3:p.Gln652Glu
ENST00000267845.7:c.1954C>G	ENSP00000267845.3:p.Gln652Glu
ENST00000543581.5:c.1855C>G	ENSP00000440252.1:p.Gln619Glu
ENST00000559816.1:n.1698C>G
NM_001306146.1:c.1855C>G	NP_001293075.1:p.Gln619Glu
NM_002112.3:c.1954C>G	NP_002103.2:p.Gln652Glu
XM_011521479.1:c.1717C>G	XP_011519781.1:p.Gln573Glu
XM_011521480.1:c.1522C>G	XP_011519782.1:p.Gln508Glu
XM_017022094.1:c.2059C>G	XP_016877583.1:p.Gln687Glu
XM_017022095.1:c.1960C>G	XP_016877584.1:p.Gln654Glu
XM_017022096.1:c.1831C>G	XP_016877585.1:p.Gln611Glu
XM_017022097.1:c.1822C>G	XP_016877586.1:p.Gln608Glu
XM_017022098.1:c.1627C>G	XP_016877587.1:p.Gln543Glu
NM_002112.4:c.1954C>G MANE Select	NP_002103.2:p.Gln652Glu
NM_001306146.2:c.1855C>G	NP_001293075.1:p.Gln619Glu