Canonical Allele Identifier: CA2448298154
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398795T= , CM000685.2:g.101398795T= GRCh38
NC_000023.10:g.100653783T= , CM000685.1:g.100653783T= GRCh37
NC_000023.9:g.100540439T= NCBI36
NG_007119.1:g.14169A= , LRG_672:g.14169A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*237A= (GLA) ENSP00000501124.2:n.*237A=
ENST00000674127.2:c.*294A= (GLA) ENSP00000501044.2:n.*294A=
ENST00000710365.1:c.866A= (GLA) ENSP00000518234.1:p.Asp289=
ENST00000218516.4:c.791A= (GLA) MANE Select ENSP00000218516.4:p.Asp264=
ENST00000466414.2:n.710A= (GLA)
ENST00000468823.2:n.1726A= (GLA)
ENST00000479445.2:n.1188A= (GLA)
ENST00000480513.6:c.*99A= (GLA) ENSP00000497055.1:n.*99A=
ENST00000486121.6:c.836A= (GLA)
ENST00000649178.1:c.914A= (GLA) ENSP00000498186.1:p.Asp305=
ENST00000674127.1:c.891A= (GLA) ENSP00000501044.1:n.891A=
ENST00000674142.1:n.878A= (GLA)
ENST00000674634.2:c.791A= (GLA) ENSP00000502629.2:p.Asp264=
ENST00000675592.1:c.791A= (GLA) ENSP00000502239.1:p.Asp264=
ENST00000675799.1:c.*99A= (GLA) ENSP00000502661.1:n.*99A=
ENST00000675968.1:n.3445A= (GLA)
ENST00000676156.1:c.755A= (GLA) ENSP00000501730.1:p.Asp252=
ENST00000676372.1:c.791A= (GLA) ENSP00000502805.1:p.Asp264=
ENST00000218516.3:c.791A= (GLA) ENSP00000218516.3:p.Asp264=
ENST00000409170.3:c.300+3338T= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3338T=
ENST00000409338.5:c.177+6973T= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6973T=
ENST00000468823.1:n.340A= (GLA)
ENST00000493905.6:c.*179A= (GLA) ENSP00000476935.1:n.*179A=
NM_000169.2:c.791A= , LRG_672t1:c.791A= (GLA) NP_000160.1:p.Asp264=
NM_001199973.1:c.408+3338T= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3338T=
NM_001199974.1:c.285+6973T= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6973T=
XR_938397.1:n.876A= (GLA)
XR_938397.2:n.897A= (GLA)
NM_001199973.2:c.300+3338T= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3338T=
NM_001199974.2:c.177+6973T= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6973T=
NM_000169.3:c.791A= (GLA) MANE Select NP_000160.1:p.Asp264=
NR_164783.1:n.870A= (GLA)