Canonical Allele Identifier: CA2448298213
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398906C= , CM000685.2:g.101398906C= GRCh38
NC_000023.10:g.100653894C= , CM000685.1:g.100653894C= GRCh37
NC_000023.9:g.100540550C= NCBI36
NG_007119.1:g.14058G= , LRG_672:g.14058G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*126G= (GLA) ENSP00000501124.2:n.*126G=
ENST00000674127.2:c.*183G= (GLA) ENSP00000501044.2:n.*183G=
ENST00000710365.1:c.755G= (GLA) ENSP00000518234.1:p.Arg252=
ENST00000218516.4:c.680G= (GLA) MANE Select ENSP00000218516.4:p.Arg227=
ENST00000466414.2:n.599G= (GLA)
ENST00000468823.2:n.1615G= (GLA)
ENST00000479445.2:n.1077G= (GLA)
ENST00000480513.6:c.588G= (GLA) ENSP00000497055.1:p.Ala196=
ENST00000486121.6:c.725G= (GLA)
ENST00000649178.1:c.803G= (GLA) ENSP00000498186.1:p.Arg268=
ENST00000674127.1:c.780G= (GLA) ENSP00000501044.1:n.780G=
ENST00000674142.1:n.767G= (GLA)
ENST00000674634.2:c.680G= (GLA) ENSP00000502629.2:p.Arg227=
ENST00000675592.1:c.680G= (GLA) ENSP00000502239.1:p.Arg227=
ENST00000675799.1:c.588G= (GLA) ENSP00000502661.1:p.Ala196=
ENST00000675968.1:n.3334G= (GLA)
ENST00000676156.1:c.644G= (GLA) ENSP00000501730.1:p.Arg215=
ENST00000676372.1:c.680G= (GLA) ENSP00000502805.1:p.Arg227=
ENST00000218516.3:c.680G= (GLA) ENSP00000218516.3:p.Arg227=
ENST00000409170.3:c.300+3449C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3449C=
ENST00000409338.5:c.177+7084C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+7084C=
ENST00000468823.1:n.229G= (GLA)
ENST00000480513.5:n.518G= (GLA)
ENST00000493905.6:c.*68G= (GLA) ENSP00000476935.1:n.*68G=
NM_000169.2:c.680G= , LRG_672t1:c.680G= (GLA) NP_000160.1:p.Arg227=
NM_001199973.1:c.408+3449C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3449C=
NM_001199974.1:c.285+7084C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+7084C=
XR_938397.1:n.765G= (GLA)
XR_938397.2:n.786G= (GLA)
NM_001199973.2:c.300+3449C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3449C=
NM_001199974.2:c.177+7084C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+7084C=
NM_000169.3:c.680G= (GLA) MANE Select NP_000160.1:p.Arg227=
NR_164783.1:n.759G= (GLA)