Canonical Allele Identifier: CA2448297961
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398386C= , CM000685.2:g.101398386C= GRCh38
NC_000023.10:g.100653374C= , CM000685.1:g.100653374C= GRCh37
NC_000023.9:g.100540030C= NCBI36
NG_007119.1:g.14578G= , LRG_672:g.14578G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*429G= (GLA) ENSP00000501124.2:n.*429G=
ENST00000674127.2:c.*486G= (GLA) ENSP00000501044.2:n.*486G=
ENST00000710365.1:c.1058G= (GLA) ENSP00000518234.1:p.Gly353=
ENST00000218516.4:c.983G= (GLA) MANE Select ENSP00000218516.4:p.Gly328=
ENST00000466414.2:n.1119G= (GLA)
ENST00000468823.2:n.2135G= (GLA)
ENST00000479445.2:n.1597G= (GLA)
ENST00000480513.6:c.*291G= (GLA) ENSP00000497055.1:n.*291G=
ENST00000486121.6:c.1028G= (GLA)
ENST00000649178.1:c.1106G= (GLA) ENSP00000498186.1:p.Gly369=
ENST00000674127.1:c.1083G= (GLA) ENSP00000501044.1:n.1083G=
ENST00000674142.1:n.1287G= (GLA)
ENST00000674634.2:c.983G= (GLA) ENSP00000502629.2:p.Gly328=
ENST00000675592.1:c.802-287G= (GLA) ENSP00000502239.1:n.802-287G=
ENST00000675799.1:c.*508G= (GLA) ENSP00000502661.1:n.*508G=
ENST00000675968.1:n.3854G= (GLA)
ENST00000676156.1:c.947G= (GLA) ENSP00000501730.1:p.Gly316=
ENST00000676372.1:c.1049G= (GLA) ENSP00000502805.1:n.1049G=
ENST00000218516.3:c.983G= (GLA) ENSP00000218516.3:p.Gly328=
ENST00000409170.3:c.300+2929C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2929C=
ENST00000409338.5:c.177+6564C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6564C=
ENST00000466414.1:n.309G= (GLA)
ENST00000493905.6:c.*371G= (GLA) ENSP00000476935.1:n.*371G=
NM_000169.2:c.983G= , LRG_672t1:c.983G= (GLA) NP_000160.1:p.Gly328=
NM_001199973.1:c.408+2929C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+2929C=
NM_001199974.1:c.285+6564C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6564C=
XR_938397.1:n.1068G= (GLA)
XR_938397.2:n.1089G= (GLA)
NM_001199973.2:c.300+2929C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+2929C=
NM_001199974.2:c.177+6564C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6564C=
NM_000169.3:c.983G= (GLA) MANE Select NP_000160.1:p.Gly328=
NR_164783.1:n.1062G= (GLA)