Canonical Allele Identifier: CA392377210

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534725G>C (hg19) ; chr15:g.50242528G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242528G>C , CM000677.2:g.50242528G>C	GRCh38
NC_000015.9:g.50534725G>C , CM000677.1:g.50534725G>C	GRCh37
NC_000015.8:g.48322017G>C	NCBI36
NG_027487.1:g.28438C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1721C>G MANE Select	ENSP00000267845.3:p.Ser574Cys
ENST00000267845.7:c.1721C>G	ENSP00000267845.3:p.Ser574Cys
ENST00000543581.5:c.1622C>G	ENSP00000440252.1:p.Ser541Cys
ENST00000559816.1:n.1465C>G
NM_001306146.1:c.1622C>G	NP_001293075.1:p.Ser541Cys
NM_002112.3:c.1721C>G	NP_002103.2:p.Ser574Cys
XM_011521479.1:c.1484C>G	XP_011519781.1:p.Ser495Cys
XM_011521480.1:c.1289C>G	XP_011519782.1:p.Ser430Cys
XM_017022094.1:c.1826C>G	XP_016877583.1:p.Ser609Cys
XM_017022095.1:c.1727C>G	XP_016877584.1:p.Ser576Cys
XM_017022096.1:c.1598C>G	XP_016877585.1:p.Ser533Cys
XM_017022097.1:c.1589C>G	XP_016877586.1:p.Ser530Cys
XM_017022098.1:c.1394C>G	XP_016877587.1:p.Ser465Cys
NM_002112.4:c.1721C>G MANE Select	NP_002103.2:p.Ser574Cys
NM_001306146.2:c.1622C>G	NP_001293075.1:p.Ser541Cys