Canonical Allele Identifier: CA392377123

Gene: HDC

Linked Data

• COSMIC: COSM1323167
• MyVariant Identifiers: chr15:g.50534683T>C (hg19) ; chr15:g.50242486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242486T>C , CM000677.2:g.50242486T>C	GRCh38
NC_000015.9:g.50534683T>C , CM000677.1:g.50534683T>C	GRCh37
NC_000015.8:g.48321975T>C	NCBI36
NG_027487.1:g.28480A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1763A>G MANE Select	ENSP00000267845.3:p.Asn588Ser
ENST00000267845.7:c.1763A>G	ENSP00000267845.3:p.Asn588Ser
ENST00000543581.5:c.1664A>G	ENSP00000440252.1:p.Asn555Ser
ENST00000559816.1:n.1507A>G
NM_001306146.1:c.1664A>G	NP_001293075.1:p.Asn555Ser
NM_002112.3:c.1763A>G	NP_002103.2:p.Asn588Ser
XM_011521479.1:c.1526A>G	XP_011519781.1:p.Asn509Ser
XM_011521480.1:c.1331A>G	XP_011519782.1:p.Asn444Ser
XM_017022094.1:c.1868A>G	XP_016877583.1:p.Asn623Ser
XM_017022095.1:c.1769A>G	XP_016877584.1:p.Asn590Ser
XM_017022096.1:c.1640A>G	XP_016877585.1:p.Asn547Ser
XM_017022097.1:c.1631A>G	XP_016877586.1:p.Asn544Ser
XM_017022098.1:c.1436A>G	XP_016877587.1:p.Asn479Ser
NM_002112.4:c.1763A>G MANE Select	NP_002103.2:p.Asn588Ser
NM_001306146.2:c.1664A>G	NP_001293075.1:p.Asn555Ser