Canonical Allele Identifier: CA2448297890
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398158T= , CM000685.2:g.101398158T= GRCh38
NC_000023.10:g.100653146T= , CM000685.1:g.100653146T= GRCh37
NC_000023.9:g.100539802T= NCBI36
NG_007119.1:g.14806A= , LRG_672:g.14806A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*446-59A= (GLA) ENSP00000501124.2:n.*446-59A=
ENST00000674127.2:c.*503-59A= (GLA) ENSP00000501044.2:n.*503-59A=
ENST00000710365.1:c.1075-59A= (GLA) ENSP00000518234.1:n.1075-59A=
ENST00000218516.4:c.1000-59A= (GLA) MANE Select ENSP00000218516.4:n.1000-59A=
ENST00000466414.2:n.1136-59A= (GLA)
ENST00000468823.2:n.2363A= (GLA)
ENST00000479445.2:n.1614-59A= (GLA)
ENST00000480513.6:c.*308-59A= (GLA) ENSP00000497055.1:n.*308-59A=
ENST00000486121.6:c.1045-59A= (GLA)
ENST00000649178.1:c.1123-59A= (GLA) ENSP00000498186.1:n.1123-59A=
ENST00000674127.1:c.1100-59A= (GLA) ENSP00000501044.1:n.1100-59A=
ENST00000674142.1:n.1304-59A= (GLA)
ENST00000675592.1:c.802-59A= (GLA) ENSP00000502239.1:n.802-59A=
ENST00000675799.1:c.*525-59A= (GLA) ENSP00000502661.1:n.*525-59A=
ENST00000675968.1:n.3871-59A= (GLA)
ENST00000676156.1:c.964-59A= (GLA) ENSP00000501730.1:n.964-59A=
ENST00000676372.1:c.1066-59A= (GLA) ENSP00000502805.1:n.1066-59A=
ENST00000218516.3:c.1000-59A= (GLA) ENSP00000218516.3:n.1000-59A=
ENST00000409170.3:c.300+2701T= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2701T=
ENST00000409338.5:c.177+6336T= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6336T=
ENST00000466414.1:n.326-59A= (GLA)
ENST00000493905.6:c.*388-59A= (GLA) ENSP00000476935.1:n.*388-59A=
NM_000169.2:c.1000-59A= , LRG_672t1:c.1000-59A= (GLA) NP_000160.1:n.1000-59A=
NM_001199973.1:c.408+2701T= (RPL36A-HNRNPH2) NP_001186902.1:n.408+2701T=
NM_001199974.1:c.285+6336T= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6336T=
XR_938397.1:n.1085-59A= (GLA)
XR_938397.2:n.1106-59A= (GLA)
NM_001199973.2:c.300+2701T= (RPL36A-HNRNPH2) NP_001186902.2:n.300+2701T=
NM_001199974.2:c.177+6336T= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6336T=
NM_000169.3:c.1000-59A= (GLA) MANE Select NP_000160.1:n.1000-59A=
NR_164783.1:n.1079-59A= (GLA)