Canonical Allele Identifier: CA392376888

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534573G>C (hg19) ; chr15:g.50242376G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242376G>C , CM000677.2:g.50242376G>C	GRCh38
NC_000015.9:g.50534573G>C , CM000677.1:g.50534573G>C	GRCh37
NC_000015.8:g.48321865G>C	NCBI36
NG_027487.1:g.28590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1873C>G MANE Select	ENSP00000267845.3:p.Leu625Val
ENST00000267845.7:c.1873C>G	ENSP00000267845.3:p.Leu625Val
ENST00000543581.5:c.1774C>G	ENSP00000440252.1:p.Leu592Val
ENST00000559816.1:n.1617C>G
NM_001306146.1:c.1774C>G	NP_001293075.1:p.Leu592Val
NM_002112.3:c.1873C>G	NP_002103.2:p.Leu625Val
XM_011521479.1:c.1636C>G	XP_011519781.1:p.Leu546Val
XM_011521480.1:c.1441C>G	XP_011519782.1:p.Leu481Val
XM_017022094.1:c.1978C>G	XP_016877583.1:p.Leu660Val
XM_017022095.1:c.1879C>G	XP_016877584.1:p.Leu627Val
XM_017022096.1:c.1750C>G	XP_016877585.1:p.Leu584Val
XM_017022097.1:c.1741C>G	XP_016877586.1:p.Leu581Val
XM_017022098.1:c.1546C>G	XP_016877587.1:p.Leu516Val
NM_002112.4:c.1873C>G MANE Select	NP_002103.2:p.Leu625Val
NM_001306146.2:c.1774C>G	NP_001293075.1:p.Leu592Val