Canonical Allele Identifier: CA2448298151
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398789T= , CM000685.2:g.101398789T= GRCh38
NC_000023.10:g.100653777T= , CM000685.1:g.100653777T= GRCh37
NC_000023.9:g.100540433T= NCBI36
NG_007119.1:g.14175A= , LRG_672:g.14175A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*243A= (GLA) ENSP00000501124.2:n.*243A=
ENST00000674127.2:c.*300A= (GLA) ENSP00000501044.2:n.*300A=
ENST00000710365.1:c.872A= (GLA) ENSP00000518234.1:p.Asp291=
ENST00000218516.4:c.797A= (GLA) MANE Select ENSP00000218516.4:p.Asp266=
ENST00000466414.2:n.716A= (GLA)
ENST00000468823.2:n.1732A= (GLA)
ENST00000479445.2:n.1194A= (GLA)
ENST00000480513.6:c.*105A= (GLA) ENSP00000497055.1:n.*105A=
ENST00000486121.6:c.842A= (GLA)
ENST00000649178.1:c.920A= (GLA) ENSP00000498186.1:p.Asp307=
ENST00000674127.1:c.897A= (GLA) ENSP00000501044.1:n.897A=
ENST00000674142.1:n.884A= (GLA)
ENST00000674634.2:c.797A= (GLA) ENSP00000502629.2:p.Asp266=
ENST00000675592.1:c.797A= (GLA) ENSP00000502239.1:p.Asp266=
ENST00000675799.1:c.*105A= (GLA) ENSP00000502661.1:n.*105A=
ENST00000675968.1:n.3451A= (GLA)
ENST00000676156.1:c.761A= (GLA) ENSP00000501730.1:p.Asp254=
ENST00000676372.1:c.797A= (GLA) ENSP00000502805.1:p.Asp266=
ENST00000218516.3:c.797A= (GLA) ENSP00000218516.3:p.Asp266=
ENST00000409170.3:c.300+3332T= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3332T=
ENST00000409338.5:c.177+6967T= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6967T=
ENST00000468823.1:n.346A= (GLA)
ENST00000493905.6:c.*185A= (GLA) ENSP00000476935.1:n.*185A=
NM_000169.2:c.797A= , LRG_672t1:c.797A= (GLA) NP_000160.1:p.Asp266=
NM_001199973.1:c.408+3332T= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3332T=
NM_001199974.1:c.285+6967T= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6967T=
XR_938397.1:n.882A= (GLA)
XR_938397.2:n.903A= (GLA)
NM_001199973.2:c.300+3332T= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3332T=
NM_001199974.2:c.177+6967T= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6967T=
NM_000169.3:c.797A= (GLA) MANE Select NP_000160.1:p.Asp266=
NR_164783.1:n.876A= (GLA)