Canonical Allele Identifier: CA2448297992
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398433C= , CM000685.2:g.101398433C= GRCh38
NC_000023.10:g.100653421C= , CM000685.1:g.100653421C= GRCh37
NC_000023.9:g.100540077C= NCBI36
NG_007119.1:g.14531G= , LRG_672:g.14531G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*382G= (GLA) ENSP00000501124.2:n.*382G=
ENST00000674127.2:c.*439G= (GLA) ENSP00000501044.2:n.*439G=
ENST00000710365.1:c.1011G= (GLA) ENSP00000518234.1:p.Gln337=
ENST00000218516.4:c.936G= (GLA) MANE Select ENSP00000218516.4:p.Gln312=
ENST00000466414.2:n.1072G= (GLA)
ENST00000468823.2:n.2088G= (GLA)
ENST00000479445.2:n.1550G= (GLA)
ENST00000480513.6:c.*244G= (GLA) ENSP00000497055.1:n.*244G=
ENST00000486121.6:c.981G= (GLA)
ENST00000649178.1:c.1059G= (GLA) ENSP00000498186.1:p.Gln353=
ENST00000674127.1:c.1036G= (GLA) ENSP00000501044.1:n.1036G=
ENST00000674142.1:n.1240G= (GLA)
ENST00000674634.2:c.936G= (GLA) ENSP00000502629.2:p.Gln312=
ENST00000675592.1:c.802-334G= (GLA) ENSP00000502239.1:n.802-334G=
ENST00000675799.1:c.*461G= (GLA) ENSP00000502661.1:n.*461G=
ENST00000675968.1:n.3807G= (GLA)
ENST00000676156.1:c.900G= (GLA) ENSP00000501730.1:p.Gln300=
ENST00000676372.1:c.1002G= (GLA) ENSP00000502805.1:n.1002G=
ENST00000218516.3:c.936G= (GLA) ENSP00000218516.3:p.Gln312=
ENST00000409170.3:c.300+2976C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2976C=
ENST00000409338.5:c.177+6611C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6611C=
ENST00000466414.1:n.262G= (GLA)
ENST00000493905.6:c.*324G= (GLA) ENSP00000476935.1:n.*324G=
NM_000169.2:c.936G= , LRG_672t1:c.936G= (GLA) NP_000160.1:p.Gln312=
NM_001199973.1:c.408+2976C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+2976C=
NM_001199974.1:c.285+6611C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6611C=
XR_938397.1:n.1021G= (GLA)
XR_938397.2:n.1042G= (GLA)
NM_001199973.2:c.300+2976C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+2976C=
NM_001199974.2:c.177+6611C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6611C=
NM_000169.3:c.936G= (GLA) MANE Select NP_000160.1:p.Gln312=
NR_164783.1:n.1015G= (GLA)