Canonical Allele Identifier: CA392377263

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534749G>C (hg19) ; chr15:g.50242552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242552G>C , CM000677.2:g.50242552G>C	GRCh38
NC_000015.9:g.50534749G>C , CM000677.1:g.50534749G>C	GRCh37
NC_000015.8:g.48322041G>C	NCBI36
NG_027487.1:g.28414C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1697C>G MANE Select	ENSP00000267845.3:p.Ser566Cys
ENST00000267845.7:c.1697C>G	ENSP00000267845.3:p.Ser566Cys
ENST00000543581.5:c.1598C>G	ENSP00000440252.1:p.Ser533Cys
ENST00000559816.1:n.1441C>G
NM_001306146.1:c.1598C>G	NP_001293075.1:p.Ser533Cys
NM_002112.3:c.1697C>G	NP_002103.2:p.Ser566Cys
XM_011521479.1:c.1460C>G	XP_011519781.1:p.Ser487Cys
XM_011521480.1:c.1265C>G	XP_011519782.1:p.Ser422Cys
XM_017022094.1:c.1802C>G	XP_016877583.1:p.Ser601Cys
XM_017022095.1:c.1703C>G	XP_016877584.1:p.Ser568Cys
XM_017022096.1:c.1574C>G	XP_016877585.1:p.Ser525Cys
XM_017022097.1:c.1565C>G	XP_016877586.1:p.Ser522Cys
XM_017022098.1:c.1370C>G	XP_016877587.1:p.Ser457Cys
NM_002112.4:c.1697C>G MANE Select	NP_002103.2:p.Ser566Cys
NM_001306146.2:c.1598C>G	NP_001293075.1:p.Ser533Cys