Canonical Allele Identifier: CA2448298014
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398479G= , CM000685.2:g.101398479G= GRCh38
NC_000023.10:g.100653467G= , CM000685.1:g.100653467G= GRCh37
NC_000023.9:g.100540123G= NCBI36
NG_007119.1:g.14485C= , LRG_672:g.14485C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*336C= (GLA) ENSP00000501124.2:n.*336C=
ENST00000674127.2:c.*393C= (GLA) ENSP00000501044.2:n.*393C=
ENST00000710365.1:c.965C= (GLA) ENSP00000518234.1:p.Ser322=
ENST00000218516.4:c.890C= (GLA) MANE Select ENSP00000218516.4:p.Ser297=
ENST00000466414.2:n.1026C= (GLA)
ENST00000468823.2:n.2042C= (GLA)
ENST00000479445.2:n.1504C= (GLA)
ENST00000480513.6:c.*198C= (GLA) ENSP00000497055.1:n.*198C=
ENST00000486121.6:c.935C= (GLA)
ENST00000649178.1:c.1013C= (GLA) ENSP00000498186.1:p.Ser338=
ENST00000674127.1:c.990C= (GLA) ENSP00000501044.1:n.990C=
ENST00000674142.1:n.1194C= (GLA)
ENST00000674634.2:c.890C= (GLA) ENSP00000502629.2:p.Ser297=
ENST00000675592.1:c.801+306C= (GLA) ENSP00000502239.1:n.801+306C=
ENST00000675799.1:c.*415C= (GLA) ENSP00000502661.1:n.*415C=
ENST00000675968.1:n.3761C= (GLA)
ENST00000676156.1:c.854C= (GLA) ENSP00000501730.1:p.Ser285=
ENST00000676372.1:c.956C= (GLA) ENSP00000502805.1:n.956C=
ENST00000218516.3:c.890C= (GLA) ENSP00000218516.3:p.Ser297=
ENST00000409170.3:c.300+3022G= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3022G=
ENST00000409338.5:c.177+6657G= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6657G=
ENST00000466414.1:n.216C= (GLA)
ENST00000493905.6:c.*278C= (GLA) ENSP00000476935.1:n.*278C=
NM_000169.2:c.890C= , LRG_672t1:c.890C= (GLA) NP_000160.1:p.Ser297=
NM_001199973.1:c.408+3022G= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3022G=
NM_001199974.1:c.285+6657G= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6657G=
XR_938397.1:n.975C= (GLA)
XR_938397.2:n.996C= (GLA)
NM_001199973.2:c.300+3022G= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3022G=
NM_001199974.2:c.177+6657G= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6657G=
NM_000169.3:c.890C= (GLA) MANE Select NP_000160.1:p.Ser297=
NR_164783.1:n.969C= (GLA)