Canonical Allele Identifier: CA2448297718
Community Standard Title: NM_000169.3(GLA):c.1066C= (p.Arg356=)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398033G= , CM000685.2:g.101398033G= GRCh38
NC_000023.10:g.100653021G= , CM000685.1:g.100653021G= GRCh37
NC_000023.9:g.100539677G= NCBI36
NG_007119.1:g.14931C= , LRG_672:g.14931C=

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1066C= (GLA) MANE Select NP_000160.1:p.Arg356=
ENST00000218516.4:c.1066C= (GLA) MANE Select ENSP00000218516.4:p.Arg356=
NM_000169.2:c.1066C= , LRG_672t1:c.1066C= (GLA) NP_000160.1:p.Arg356=
NM_001199973.1:c.408+2576G= (RPL36A-HNRNPH2) NP_001186902.1:n.408+2576G=
NM_001199973.2:c.300+2576G= (RPL36A-HNRNPH2) NP_001186902.2:n.300+2576G=
NM_001199974.1:c.285+6211G= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6211G=
NM_001199974.2:c.177+6211G= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6211G=
NR_164783.1:n.1145C= (GLA)
ENST00000218516.3:c.1066C= (GLA) ENSP00000218516.3:p.Arg356=
ENST00000409170.3:c.300+2576G= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2576G=
ENST00000409338.5:c.177+6211G= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6211G=
ENST00000466414.1:n.392C= (GLA)
ENST00000466414.2:n.1202C= (GLA)
ENST00000468823.2:n.2488C= (GLA)
ENST00000479445.2:n.1680C= (GLA)
ENST00000480513.6:c.*374C= (GLA) ENSP00000497055.1:n.*374C=
ENST00000486121.6:c.1111C= (GLA)
ENST00000486121.7:c.*512C= (GLA) ENSP00000501124.2:n.*512C=
ENST00000493905.6:c.*454C= (GLA) ENSP00000476935.1:n.*454C=
ENST00000649178.1:c.1189C= (GLA) ENSP00000498186.1:p.Arg397=
ENST00000674127.1:c.1166C= (GLA) ENSP00000501044.1:n.1166C=
ENST00000674127.2:c.*569C= (GLA) ENSP00000501044.2:n.*569C=
ENST00000674142.1:n.1370C= (GLA)
ENST00000675592.1:c.868C= (GLA) ENSP00000502239.1:p.Arg290=
ENST00000675799.1:c.*591C= (GLA) ENSP00000502661.1:n.*591C=
ENST00000675968.1:n.3937C= (GLA)
ENST00000676156.1:c.1030C= (GLA) ENSP00000501730.1:p.Arg344=
ENST00000676372.1:c.1132C= (GLA) ENSP00000502805.1:n.1132C=
ENST00000710365.1:c.1141C= (GLA) ENSP00000518234.1:p.Arg381=
XR_938397.1:n.1151C= (GLA)
XR_938397.2:n.1172C= (GLA)