Canonical Allele Identifier: CA392376424

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534478G>C (hg19) ; chr15:g.50242281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242281G>C , CM000677.2:g.50242281G>C	GRCh38
NC_000015.9:g.50534478G>C , CM000677.1:g.50534478G>C	GRCh37
NC_000015.8:g.48321770G>C	NCBI36
NG_027487.1:g.28685C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1968C>G MANE Select	ENSP00000267845.3:p.Cys656Trp
ENST00000267845.7:c.1968C>G	ENSP00000267845.3:p.Cys656Trp
ENST00000543581.5:c.1869C>G	ENSP00000440252.1:p.Cys623Trp
ENST00000559816.1:n.1712C>G
NM_001306146.1:c.1869C>G	NP_001293075.1:p.Cys623Trp
NM_002112.3:c.1968C>G	NP_002103.2:p.Cys656Trp
XM_011521479.1:c.1731C>G	XP_011519781.1:p.Cys577Trp
XM_011521480.1:c.1536C>G	XP_011519782.1:p.Cys512Trp
XM_017022094.1:c.2073C>G	XP_016877583.1:p.Cys691Trp
XM_017022095.1:c.1974C>G	XP_016877584.1:p.Cys658Trp
XM_017022096.1:c.1845C>G	XP_016877585.1:p.Cys615Trp
XM_017022097.1:c.1836C>G	XP_016877586.1:p.Cys612Trp
XM_017022098.1:c.1641C>G	XP_016877587.1:p.Cys547Trp
NM_002112.4:c.1968C>G MANE Select	NP_002103.2:p.Cys656Trp
NM_001306146.2:c.1869C>G	NP_001293075.1:p.Cys623Trp