Canonical Allele Identifier: CA392377124

Gene: HDC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1763A>C MANE Select	ENSP00000267845.3:p.Asn588Thr
ENST00000267845.7:c.1763A>C	ENSP00000267845.3:p.Asn588Thr
ENST00000543581.5:c.1664A>C	ENSP00000440252.1:p.Asn555Thr
ENST00000559816.1:n.1507A>C
NM_001306146.1:c.1664A>C	NP_001293075.1:p.Asn555Thr
NM_002112.3:c.1763A>C	NP_002103.2:p.Asn588Thr
XM_011521479.1:c.1526A>C	XP_011519781.1:p.Asn509Thr
XM_011521480.1:c.1331A>C	XP_011519782.1:p.Asn444Thr
XM_017022094.1:c.1868A>C	XP_016877583.1:p.Asn623Thr
XM_017022095.1:c.1769A>C	XP_016877584.1:p.Asn590Thr
XM_017022096.1:c.1640A>C	XP_016877585.1:p.Asn547Thr
XM_017022097.1:c.1631A>C	XP_016877586.1:p.Asn544Thr
XM_017022098.1:c.1436A>C	XP_016877587.1:p.Asn479Thr
NM_002112.4:c.1763A>C MANE Select	NP_002103.2:p.Asn588Thr
NM_001306146.2:c.1664A>C	NP_001293075.1:p.Asn555Thr