Canonical Allele Identifier: CA392377213

Gene: HDC

Linked Data

• dbSNP Id: rs1160751226
• MyVariant Identifiers: chr15:g.50534726A>C (hg19) ; chr15:g.50242529A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242529A>C , CM000677.2:g.50242529A>C	GRCh38
NC_000015.9:g.50534726A>C , CM000677.1:g.50534726A>C	GRCh37
NC_000015.8:g.48322018A>C	NCBI36
NG_027487.1:g.28437T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1720T>G MANE Select	ENSP00000267845.3:p.Ser574Ala
ENST00000267845.7:c.1720T>G	ENSP00000267845.3:p.Ser574Ala
ENST00000543581.5:c.1621T>G	ENSP00000440252.1:p.Ser541Ala
ENST00000559816.1:n.1464T>G
NM_001306146.1:c.1621T>G	NP_001293075.1:p.Ser541Ala
NM_002112.3:c.1720T>G	NP_002103.2:p.Ser574Ala
XM_011521479.1:c.1483T>G	XP_011519781.1:p.Ser495Ala
XM_011521480.1:c.1288T>G	XP_011519782.1:p.Ser430Ala
XM_017022094.1:c.1825T>G	XP_016877583.1:p.Ser609Ala
XM_017022095.1:c.1726T>G	XP_016877584.1:p.Ser576Ala
XM_017022096.1:c.1597T>G	XP_016877585.1:p.Ser533Ala
XM_017022097.1:c.1588T>G	XP_016877586.1:p.Ser530Ala
XM_017022098.1:c.1393T>G	XP_016877587.1:p.Ser465Ala
NM_002112.4:c.1720T>G MANE Select	NP_002103.2:p.Ser574Ala
NM_001306146.2:c.1621T>G	NP_001293075.1:p.Ser541Ala