Canonical Allele Identifier: CA392376920

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534585C>T (hg19) ; chr15:g.50242388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242388C>T , CM000677.2:g.50242388C>T	GRCh38
NC_000015.9:g.50534585C>T , CM000677.1:g.50534585C>T	GRCh37
NC_000015.8:g.48321877C>T	NCBI36
NG_027487.1:g.28578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1861G>A MANE Select	ENSP00000267845.3:p.Asp621Asn
ENST00000267845.7:c.1861G>A	ENSP00000267845.3:p.Asp621Asn
ENST00000543581.5:c.1762G>A	ENSP00000440252.1:p.Asp588Asn
ENST00000559816.1:n.1605G>A
NM_001306146.1:c.1762G>A	NP_001293075.1:p.Asp588Asn
NM_002112.3:c.1861G>A	NP_002103.2:p.Asp621Asn
XM_011521479.1:c.1624G>A	XP_011519781.1:p.Asp542Asn
XM_011521480.1:c.1429G>A	XP_011519782.1:p.Asp477Asn
XM_017022094.1:c.1966G>A	XP_016877583.1:p.Asp656Asn
XM_017022095.1:c.1867G>A	XP_016877584.1:p.Asp623Asn
XM_017022096.1:c.1738G>A	XP_016877585.1:p.Asp580Asn
XM_017022097.1:c.1729G>A	XP_016877586.1:p.Asp577Asn
XM_017022098.1:c.1534G>A	XP_016877587.1:p.Asp512Asn
NM_002112.4:c.1861G>A MANE Select	NP_002103.2:p.Asp621Asn
NM_001306146.2:c.1762G>A	NP_001293075.1:p.Asp588Asn