Canonical Allele Identifier: CA2448298168
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398818A= , CM000685.2:g.101398818A= GRCh38
NC_000023.10:g.100653806A= , CM000685.1:g.100653806A= GRCh37
NC_000023.9:g.100540462A= NCBI36
NG_007119.1:g.14146T= , LRG_672:g.14146T=

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*214T= (GLA) ENSP00000501124.2:n.*214T=
ENST00000674127.2:c.*271T= (GLA) ENSP00000501044.2:n.*271T=
ENST00000710365.1:c.843T= (GLA) ENSP00000518234.1:p.Val281=
ENST00000218516.4:c.768T= (GLA) MANE Select ENSP00000218516.4:p.Val256=
ENST00000466414.2:n.687T= (GLA)
ENST00000468823.2:n.1703T= (GLA)
ENST00000479445.2:n.1165T= (GLA)
ENST00000480513.6:c.*76T= (GLA) ENSP00000497055.1:n.*76T=
ENST00000486121.6:c.813T= (GLA)
ENST00000649178.1:c.891T= (GLA) ENSP00000498186.1:p.Val297=
ENST00000674127.1:c.868T= (GLA) ENSP00000501044.1:n.868T=
ENST00000674142.1:n.855T= (GLA)
ENST00000674634.2:c.768T= (GLA) ENSP00000502629.2:p.Val256=
ENST00000675592.1:c.768T= (GLA) ENSP00000502239.1:p.Val256=
ENST00000675799.1:c.*76T= (GLA) ENSP00000502661.1:n.*76T=
ENST00000675968.1:n.3422T= (GLA)
ENST00000676156.1:c.732T= (GLA) ENSP00000501730.1:p.Val244=
ENST00000676372.1:c.768T= (GLA) ENSP00000502805.1:p.Val256=
ENST00000218516.3:c.768T= (GLA) ENSP00000218516.3:p.Val256=
ENST00000409170.3:c.300+3361A= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3361A=
ENST00000409338.5:c.177+6996A= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6996A=
ENST00000468823.1:n.317T= (GLA)
ENST00000480513.5:n.606T= (GLA)
ENST00000493905.6:c.*156T= (GLA) ENSP00000476935.1:n.*156T=
NM_000169.2:c.768T= , LRG_672t1:c.768T= (GLA) NP_000160.1:p.Val256=
NM_001199973.1:c.408+3361A= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3361A=
NM_001199974.1:c.285+6996A= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6996A=
XR_938397.1:n.853T= (GLA)
XR_938397.2:n.874T= (GLA)
NM_001199973.2:c.300+3361A= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3361A=
NM_001199974.2:c.177+6996A= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6996A=
NM_000169.3:c.768T= (GLA) MANE Select NP_000160.1:p.Val256=
NR_164783.1:n.847T= (GLA)