Canonical Allele Identifier: CA2448297565
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397954C= , CM000685.2:g.101397954C= GRCh38
NC_000023.10:g.100652942C= , CM000685.1:g.100652942C= GRCh37
NC_000023.9:g.100539598C= NCBI36
NG_007119.1:g.15010G= , LRG_672:g.15010G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*591G= (GLA) ENSP00000501124.2:n.*591G=
ENST00000674127.2:c.*648G= (GLA) ENSP00000501044.2:n.*648G=
ENST00000710365.1:c.1220G= (GLA) ENSP00000518234.1:p.Cys407=
ENST00000218516.4:c.1145G= (GLA) MANE Select ENSP00000218516.4:p.Cys382=
ENST00000466414.2:n.1281G= (GLA)
ENST00000468823.2:n.2567G= (GLA)
ENST00000479445.2:n.1759G= (GLA)
ENST00000480513.6:c.*453G= (GLA) ENSP00000497055.1:n.*453G=
ENST00000486121.6:c.1190G= (GLA)
ENST00000649178.1:c.1268G= (GLA) ENSP00000498186.1:p.Cys423=
ENST00000674127.1:c.1245G= (GLA) ENSP00000501044.1:n.1245G=
ENST00000674142.1:n.1421+28G= (GLA)
ENST00000675592.1:c.947G= (GLA) ENSP00000502239.1:p.Cys316=
ENST00000675799.1:c.*670G= (GLA) ENSP00000502661.1:n.*670G=
ENST00000675968.1:n.4016G= (GLA)
ENST00000676156.1:c.1109G= (GLA) ENSP00000501730.1:p.Cys370=
ENST00000676372.1:c.1211G= (GLA) ENSP00000502805.1:n.1211G=
ENST00000218516.3:c.1145G= (GLA) ENSP00000218516.3:p.Cys382=
ENST00000409170.3:c.300+2497C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2497C=
ENST00000409338.5:c.177+6132C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6132C=
ENST00000466414.1:n.471G= (GLA)
ENST00000493905.6:c.*533G= (GLA) ENSP00000476935.1:n.*533G=
NM_000169.2:c.1145G= , LRG_672t1:c.1145G= (GLA) NP_000160.1:p.Cys382=
NM_001199973.1:c.408+2497C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+2497C=
NM_001199974.1:c.285+6132C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6132C=
XR_938397.1:n.1230G= (GLA)
XR_938397.2:n.1251G= (GLA)
NM_001199973.2:c.300+2497C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+2497C=
NM_001199974.2:c.177+6132C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6132C=
NM_000169.3:c.1145G= (GLA) MANE Select NP_000160.1:p.Cys382=
NR_164783.1:n.1224G= (GLA)