Canonical Allele Identifier: CA2448298025
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398495C= , CM000685.2:g.101398495C= GRCh38
NC_000023.10:g.100653483C= , CM000685.1:g.100653483C= GRCh37
NC_000023.9:g.100540139C= NCBI36
NG_007119.1:g.14469G= , LRG_672:g.14469G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*320G= (GLA) ENSP00000501124.2:n.*320G=
ENST00000674127.2:c.*377G= (GLA) ENSP00000501044.2:n.*377G=
ENST00000710365.1:c.949G= (GLA) ENSP00000518234.1:p.Ala317=
ENST00000218516.4:c.874G= (GLA) MANE Select ENSP00000218516.4:p.Ala292=
ENST00000466414.2:n.1010G= (GLA)
ENST00000468823.2:n.2026G= (GLA)
ENST00000479445.2:n.1488G= (GLA)
ENST00000480513.6:c.*182G= (GLA) ENSP00000497055.1:n.*182G=
ENST00000486121.6:c.919G= (GLA)
ENST00000649178.1:c.997G= (GLA) ENSP00000498186.1:p.Ala333=
ENST00000674127.1:c.974G= (GLA) ENSP00000501044.1:n.974G=
ENST00000674142.1:n.1178G= (GLA)
ENST00000674634.2:c.874G= (GLA) ENSP00000502629.2:p.Ala292=
ENST00000675592.1:c.801+290G= (GLA) ENSP00000502239.1:n.801+290G=
ENST00000675799.1:c.*399G= (GLA) ENSP00000502661.1:n.*399G=
ENST00000675968.1:n.3745G= (GLA)
ENST00000676156.1:c.838G= (GLA) ENSP00000501730.1:p.Ala280=
ENST00000676372.1:c.940G= (GLA) ENSP00000502805.1:n.940G=
ENST00000218516.3:c.874G= (GLA) ENSP00000218516.3:p.Ala292=
ENST00000409170.3:c.300+3038C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3038C=
ENST00000409338.5:c.177+6673C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6673C=
ENST00000466414.1:n.200G= (GLA)
ENST00000493905.6:c.*262G= (GLA) ENSP00000476935.1:n.*262G=
NM_000169.2:c.874G= , LRG_672t1:c.874G= (GLA) NP_000160.1:p.Ala292=
NM_001199973.1:c.408+3038C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3038C=
NM_001199974.1:c.285+6673C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6673C=
XR_938397.1:n.959G= (GLA)
XR_938397.2:n.980G= (GLA)
NM_001199973.2:c.300+3038C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3038C=
NM_001199974.2:c.177+6673C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6673C=
NM_000169.3:c.874G= (GLA) MANE Select NP_000160.1:p.Ala292=
NR_164783.1:n.953G= (GLA)