Canonical Allele Identifier: CA2176326572

Gene: HDC

Linked Data

• dbSNP Id: rs2045406932

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242383_50242385del , CM000677.2:g.50242383_50242385del	GRCh38
NC_000015.9:g.50534580_50534582del , CM000677.1:g.50534580_50534582del	GRCh37
NC_000015.8:g.48321872_48321874del	NCBI36
NG_027487.1:g.28587_28589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1870_1872del MANE Select	ENSP00000267845.3:p.Met624del
ENST00000267845.7:c.1870_1872del	ENSP00000267845.3:p.Met624del
ENST00000543581.5:c.1771_1773del	ENSP00000440252.1:p.Met591del
ENST00000559816.1:n.1614_1616del
NM_001306146.1:c.1771_1773del	NP_001293075.1:p.Met591del
NM_002112.3:c.1870_1872del	NP_002103.2:p.Met624del
XM_011521479.1:c.1633_1635del	XP_011519781.1:p.Met545del
XM_011521480.1:c.1438_1440del	XP_011519782.1:p.Met480del
XM_017022094.1:c.1975_1977del	XP_016877583.1:p.Met659del
XM_017022095.1:c.1876_1878del	XP_016877584.1:p.Met626del
XM_017022096.1:c.1747_1749del	XP_016877585.1:p.Met583del
XM_017022097.1:c.1738_1740del	XP_016877586.1:p.Met580del
XM_017022098.1:c.1543_1545del	XP_016877587.1:p.Met515del
NM_002112.4:c.1870_1872del MANE Select	NP_002103.2:p.Met624del
NM_001306146.2:c.1771_1773del	NP_001293075.1:p.Met591del