Canonical Allele Identifier: CA2448297991
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398432C= , CM000685.2:g.101398432C= GRCh38
NC_000023.10:g.100653420C= , CM000685.1:g.100653420C= GRCh37
NC_000023.9:g.100540076C= NCBI36
NG_007119.1:g.14532G= , LRG_672:g.14532G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*383G= (GLA) ENSP00000501124.2:n.*383G=
ENST00000674127.2:c.*440G= (GLA) ENSP00000501044.2:n.*440G=
ENST00000710365.1:c.1012G= (GLA) ENSP00000518234.1:p.Asp338=
ENST00000218516.4:c.937G= (GLA) MANE Select ENSP00000218516.4:p.Asp313=
ENST00000466414.2:n.1073G= (GLA)
ENST00000468823.2:n.2089G= (GLA)
ENST00000479445.2:n.1551G= (GLA)
ENST00000480513.6:c.*245G= (GLA) ENSP00000497055.1:n.*245G=
ENST00000486121.6:c.982G= (GLA)
ENST00000649178.1:c.1060G= (GLA) ENSP00000498186.1:p.Asp354=
ENST00000674127.1:c.1037G= (GLA) ENSP00000501044.1:n.1037G=
ENST00000674142.1:n.1241G= (GLA)
ENST00000674634.2:c.937G= (GLA) ENSP00000502629.2:p.Asp313=
ENST00000675592.1:c.802-333G= (GLA) ENSP00000502239.1:n.802-333G=
ENST00000675799.1:c.*462G= (GLA) ENSP00000502661.1:n.*462G=
ENST00000675968.1:n.3808G= (GLA)
ENST00000676156.1:c.901G= (GLA) ENSP00000501730.1:p.Asp301=
ENST00000676372.1:c.1003G= (GLA) ENSP00000502805.1:n.1003G=
ENST00000218516.3:c.937G= (GLA) ENSP00000218516.3:p.Asp313=
ENST00000409170.3:c.300+2975C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2975C=
ENST00000409338.5:c.177+6610C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6610C=
ENST00000466414.1:n.263G= (GLA)
ENST00000493905.6:c.*325G= (GLA) ENSP00000476935.1:n.*325G=
NM_000169.2:c.937G= , LRG_672t1:c.937G= (GLA) NP_000160.1:p.Asp313=
NM_001199973.1:c.408+2975C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+2975C=
NM_001199974.1:c.285+6610C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6610C=
XR_938397.1:n.1022G= (GLA)
XR_938397.2:n.1043G= (GLA)
NM_001199973.2:c.300+2975C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+2975C=
NM_001199974.2:c.177+6610C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6610C=
NM_000169.3:c.937G= (GLA) MANE Select NP_000160.1:p.Asp313=
NR_164783.1:n.1016G= (GLA)