Canonical Allele Identifier: CA392377219

Gene: HDC

Linked Data

• dbSNP Id: rs1479138589
• MyVariant Identifiers: chr15:g.50534728A>G (hg19) ; chr15:g.50242531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242531A>G , CM000677.2:g.50242531A>G	GRCh38
NC_000015.9:g.50534728A>G , CM000677.1:g.50534728A>G	GRCh37
NC_000015.8:g.48322020A>G	NCBI36
NG_027487.1:g.28435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1718T>C MANE Select	ENSP00000267845.3:p.Leu573Ser
ENST00000267845.7:c.1718T>C	ENSP00000267845.3:p.Leu573Ser
ENST00000543581.5:c.1619T>C	ENSP00000440252.1:p.Leu540Ser
ENST00000559816.1:n.1462T>C
NM_001306146.1:c.1619T>C	NP_001293075.1:p.Leu540Ser
NM_002112.3:c.1718T>C	NP_002103.2:p.Leu573Ser
XM_011521479.1:c.1481T>C	XP_011519781.1:p.Leu494Ser
XM_011521480.1:c.1286T>C	XP_011519782.1:p.Leu429Ser
XM_017022094.1:c.1823T>C	XP_016877583.1:p.Leu608Ser
XM_017022095.1:c.1724T>C	XP_016877584.1:p.Leu575Ser
XM_017022096.1:c.1595T>C	XP_016877585.1:p.Leu532Ser
XM_017022097.1:c.1586T>C	XP_016877586.1:p.Leu529Ser
XM_017022098.1:c.1391T>C	XP_016877587.1:p.Leu464Ser
NM_002112.4:c.1718T>C MANE Select	NP_002103.2:p.Leu573Ser
NM_001306146.2:c.1619T>C	NP_001293075.1:p.Leu540Ser