Canonical Allele Identifier: CA2448298027
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398499C= , CM000685.2:g.101398499C= GRCh38
NC_000023.10:g.100653487C= , CM000685.1:g.100653487C= GRCh37
NC_000023.9:g.100540143C= NCBI36
NG_007119.1:g.14465G= , LRG_672:g.14465G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*316G= (GLA) ENSP00000501124.2:n.*316G=
ENST00000674127.2:c.*373G= (GLA) ENSP00000501044.2:n.*373G=
ENST00000710365.1:c.945G= (GLA) ENSP00000518234.1:p.Met315=
ENST00000218516.4:c.870G= (GLA) MANE Select ENSP00000218516.4:p.Met290=
ENST00000466414.2:n.1006G= (GLA)
ENST00000468823.2:n.2022G= (GLA)
ENST00000479445.2:n.1484G= (GLA)
ENST00000480513.6:c.*178G= (GLA) ENSP00000497055.1:n.*178G=
ENST00000486121.6:c.915G= (GLA)
ENST00000649178.1:c.993G= (GLA) ENSP00000498186.1:p.Met331=
ENST00000674127.1:c.970G= (GLA) ENSP00000501044.1:n.970G=
ENST00000674142.1:n.1174G= (GLA)
ENST00000674634.2:c.870G= (GLA) ENSP00000502629.2:p.Met290=
ENST00000675592.1:c.801+286G= (GLA) ENSP00000502239.1:n.801+286G=
ENST00000675799.1:c.*395G= (GLA) ENSP00000502661.1:n.*395G=
ENST00000675968.1:n.3741G= (GLA)
ENST00000676156.1:c.834G= (GLA) ENSP00000501730.1:p.Met278=
ENST00000676372.1:c.936G= (GLA) ENSP00000502805.1:n.936G=
ENST00000218516.3:c.870G= (GLA) ENSP00000218516.3:p.Met290=
ENST00000409170.3:c.300+3042C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3042C=
ENST00000409338.5:c.177+6677C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6677C=
ENST00000466414.1:n.196G= (GLA)
ENST00000493905.6:c.*258G= (GLA) ENSP00000476935.1:n.*258G=
NM_000169.2:c.870G= , LRG_672t1:c.870G= (GLA) NP_000160.1:p.Met290=
NM_001199973.1:c.408+3042C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3042C=
NM_001199974.1:c.285+6677C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6677C=
XR_938397.1:n.955G= (GLA)
XR_938397.2:n.976G= (GLA)
NM_001199973.2:c.300+3042C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3042C=
NM_001199974.2:c.177+6677C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6677C=
NM_000169.3:c.870G= (GLA) MANE Select NP_000160.1:p.Met290=
NR_164783.1:n.949G= (GLA)