Canonical Allele Identifier: CA392377312

Gene: HDC

Linked Data

• ClinVar Variation Id: 2281295
• ClinVar RCV Id: RCV004133906
• MyVariant Identifiers: chr15:g.50534771C>T (hg19) ; chr15:g.50242574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242574C>T , CM000677.2:g.50242574C>T	GRCh38
NC_000015.9:g.50534771C>T , CM000677.1:g.50534771C>T	GRCh37
NC_000015.8:g.48322063C>T	NCBI36
NG_027487.1:g.28392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1675G>A MANE Select	ENSP00000267845.3:p.Asp559Asn
ENST00000267845.7:c.1675G>A	ENSP00000267845.3:p.Asp559Asn
ENST00000543581.5:c.1576G>A	ENSP00000440252.1:p.Asp526Asn
ENST00000559816.1:n.1419G>A
NM_001306146.1:c.1576G>A	NP_001293075.1:p.Asp526Asn
NM_002112.3:c.1675G>A	NP_002103.2:p.Asp559Asn
XM_011521479.1:c.1438G>A	XP_011519781.1:p.Asp480Asn
XM_011521480.1:c.1243G>A	XP_011519782.1:p.Asp415Asn
XM_017022094.1:c.1780G>A	XP_016877583.1:p.Asp594Asn
XM_017022095.1:c.1681G>A	XP_016877584.1:p.Asp561Asn
XM_017022096.1:c.1552G>A	XP_016877585.1:p.Asp518Asn
XM_017022097.1:c.1543G>A	XP_016877586.1:p.Asp515Asn
XM_017022098.1:c.1348G>A	XP_016877587.1:p.Asp450Asn
NM_002112.4:c.1675G>A MANE Select	NP_002103.2:p.Asp559Asn
NM_001306146.2:c.1576G>A	NP_001293075.1:p.Asp526Asn