Canonical Allele Identifier: CA392377063

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534654G>C (hg19) ; chr15:g.50242457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242457G>C , CM000677.2:g.50242457G>C	GRCh38
NC_000015.9:g.50534654G>C , CM000677.1:g.50534654G>C	GRCh37
NC_000015.8:g.48321946G>C	NCBI36
NG_027487.1:g.28509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1792C>G MANE Select	ENSP00000267845.3:p.Leu598Val
ENST00000267845.7:c.1792C>G	ENSP00000267845.3:p.Leu598Val
ENST00000543581.5:c.1693C>G	ENSP00000440252.1:p.Leu565Val
ENST00000559816.1:n.1536C>G
NM_001306146.1:c.1693C>G	NP_001293075.1:p.Leu565Val
NM_002112.3:c.1792C>G	NP_002103.2:p.Leu598Val
XM_011521479.1:c.1555C>G	XP_011519781.1:p.Leu519Val
XM_011521480.1:c.1360C>G	XP_011519782.1:p.Leu454Val
XM_017022094.1:c.1897C>G	XP_016877583.1:p.Leu633Val
XM_017022095.1:c.1798C>G	XP_016877584.1:p.Leu600Val
XM_017022096.1:c.1669C>G	XP_016877585.1:p.Leu557Val
XM_017022097.1:c.1660C>G	XP_016877586.1:p.Leu554Val
XM_017022098.1:c.1465C>G	XP_016877587.1:p.Leu489Val
NM_002112.4:c.1792C>G MANE Select	NP_002103.2:p.Leu598Val
NM_001306146.2:c.1693C>G	NP_001293075.1:p.Leu565Val