Canonical Allele Identifier: CA392377217

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534728A>C (hg19) ; chr15:g.50242531A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242531A>C , CM000677.2:g.50242531A>C	GRCh38
NC_000015.9:g.50534728A>C , CM000677.1:g.50534728A>C	GRCh37
NC_000015.8:g.48322020A>C	NCBI36
NG_027487.1:g.28435T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1718T>G MANE Select	ENSP00000267845.3:p.Leu573Trp
ENST00000267845.7:c.1718T>G	ENSP00000267845.3:p.Leu573Trp
ENST00000543581.5:c.1619T>G	ENSP00000440252.1:p.Leu540Trp
ENST00000559816.1:n.1462T>G
NM_001306146.1:c.1619T>G	NP_001293075.1:p.Leu540Trp
NM_002112.3:c.1718T>G	NP_002103.2:p.Leu573Trp
XM_011521479.1:c.1481T>G	XP_011519781.1:p.Leu494Trp
XM_011521480.1:c.1286T>G	XP_011519782.1:p.Leu429Trp
XM_017022094.1:c.1823T>G	XP_016877583.1:p.Leu608Trp
XM_017022095.1:c.1724T>G	XP_016877584.1:p.Leu575Trp
XM_017022096.1:c.1595T>G	XP_016877585.1:p.Leu532Trp
XM_017022097.1:c.1586T>G	XP_016877586.1:p.Leu529Trp
XM_017022098.1:c.1391T>G	XP_016877587.1:p.Leu464Trp
NM_002112.4:c.1718T>G MANE Select	NP_002103.2:p.Leu573Trp
NM_001306146.2:c.1619T>G	NP_001293075.1:p.Leu540Trp