Canonical Allele Identifier: CA2448298026
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398498C= , CM000685.2:g.101398498C= GRCh38
NC_000023.10:g.100653486C= , CM000685.1:g.100653486C= GRCh37
NC_000023.9:g.100540142C= NCBI36
NG_007119.1:g.14466G= , LRG_672:g.14466G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*317G= (GLA) ENSP00000501124.2:n.*317G=
ENST00000674127.2:c.*374G= (GLA) ENSP00000501044.2:n.*374G=
ENST00000710365.1:c.946G= (GLA) ENSP00000518234.1:p.Ala316=
ENST00000218516.4:c.871G= (GLA) MANE Select ENSP00000218516.4:p.Ala291=
ENST00000466414.2:n.1007G= (GLA)
ENST00000468823.2:n.2023G= (GLA)
ENST00000479445.2:n.1485G= (GLA)
ENST00000480513.6:c.*179G= (GLA) ENSP00000497055.1:n.*179G=
ENST00000486121.6:c.916G= (GLA)
ENST00000649178.1:c.994G= (GLA) ENSP00000498186.1:p.Ala332=
ENST00000674127.1:c.971G= (GLA) ENSP00000501044.1:n.971G=
ENST00000674142.1:n.1175G= (GLA)
ENST00000674634.2:c.871G= (GLA) ENSP00000502629.2:p.Ala291=
ENST00000675592.1:c.801+287G= (GLA) ENSP00000502239.1:n.801+287G=
ENST00000675799.1:c.*396G= (GLA) ENSP00000502661.1:n.*396G=
ENST00000675968.1:n.3742G= (GLA)
ENST00000676156.1:c.835G= (GLA) ENSP00000501730.1:p.Ala279=
ENST00000676372.1:c.937G= (GLA) ENSP00000502805.1:n.937G=
ENST00000218516.3:c.871G= (GLA) ENSP00000218516.3:p.Ala291=
ENST00000409170.3:c.300+3041C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3041C=
ENST00000409338.5:c.177+6676C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6676C=
ENST00000466414.1:n.197G= (GLA)
ENST00000493905.6:c.*259G= (GLA) ENSP00000476935.1:n.*259G=
NM_000169.2:c.871G= , LRG_672t1:c.871G= (GLA) NP_000160.1:p.Ala291=
NM_001199973.1:c.408+3041C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3041C=
NM_001199974.1:c.285+6676C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6676C=
XR_938397.1:n.956G= (GLA)
XR_938397.2:n.977G= (GLA)
NM_001199973.2:c.300+3041C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3041C=
NM_001199974.2:c.177+6676C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6676C=
NM_000169.3:c.871G= (GLA) MANE Select NP_000160.1:p.Ala291=
NR_164783.1:n.950G= (GLA)