Canonical Allele Identifier: CA2730790619

Gene: HDC

Linked Data

• dbSNP Id: rs2140921699

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242563del , CM000677.2:g.50242563del	GRCh38
NC_000015.9:g.50534760del , CM000677.1:g.50534760del	GRCh37
NC_000015.8:g.48322052del	NCBI36
NG_027487.1:g.28403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1686del MANE Select	ENSP00000267845.3:p.Lys562AsnfsTer?
ENST00000267845.7:c.1686del	ENSP00000267845.3:p.Lys562AsnfsTer?
ENST00000543581.5:c.1587del	ENSP00000440252.1:p.Lys529AsnfsTer?
ENST00000559816.1:n.1430del
NM_001306146.1:c.1587del	NP_001293075.1:p.Lys529AsnfsTer?
NM_002112.3:c.1686del	NP_002103.2:p.Lys562AsnfsTer?
XM_011521479.1:c.1449del	XP_011519781.1:p.Lys483AsnfsTer?
XM_011521480.1:c.1254del	XP_011519782.1:p.Lys418AsnfsTer?
XM_017022094.1:c.1791del	XP_016877583.1:p.Lys597AsnfsTer?
XM_017022095.1:c.1692del	XP_016877584.1:p.Lys564AsnfsTer?
XM_017022096.1:c.1563del	XP_016877585.1:p.Lys521AsnfsTer?
XM_017022097.1:c.1554del	XP_016877586.1:p.Lys518AsnfsTer?
XM_017022098.1:c.1359del	XP_016877587.1:p.Lys453AsnfsTer?
NM_002112.4:c.1686del MANE Select	NP_002103.2:p.Lys562AsnfsTer?
NM_001306146.2:c.1587del	NP_001293075.1:p.Lys529AsnfsTer?