Canonical Allele Identifier: CA2448298060
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398554T= , CM000685.2:g.101398554T= GRCh38
NC_000023.10:g.100653542T= , CM000685.1:g.100653542T= GRCh37
NC_000023.9:g.100540198T= NCBI36
NG_007119.1:g.14410A= , LRG_672:g.14410A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*261A= (GLA) ENSP00000501124.2:n.*261A=
ENST00000674127.2:c.*318A= (GLA) ENSP00000501044.2:n.*318A=
ENST00000710365.1:c.890A= (GLA) ENSP00000518234.1:p.Asn297=
ENST00000218516.4:c.815A= (GLA) MANE Select ENSP00000218516.4:p.Asn272=
ENST00000466414.2:n.951A= (GLA)
ENST00000468823.2:n.1967A= (GLA)
ENST00000479445.2:n.1429A= (GLA)
ENST00000480513.6:c.*123A= (GLA) ENSP00000497055.1:n.*123A=
ENST00000486121.6:c.860A= (GLA)
ENST00000649178.1:c.938A= (GLA) ENSP00000498186.1:p.Asn313=
ENST00000674127.1:c.915A= (GLA) ENSP00000501044.1:n.915A=
ENST00000674142.1:n.1119A= (GLA)
ENST00000674634.2:c.815A= (GLA) ENSP00000502629.2:p.Asn272=
ENST00000675592.1:c.801+231A= (GLA) ENSP00000502239.1:n.801+231A=
ENST00000675799.1:c.*340A= (GLA) ENSP00000502661.1:n.*340A=
ENST00000675968.1:n.3686A= (GLA)
ENST00000676156.1:c.779A= (GLA) ENSP00000501730.1:p.Asn260=
ENST00000676372.1:c.881A= (GLA) ENSP00000502805.1:n.881A=
ENST00000218516.3:c.815A= (GLA) ENSP00000218516.3:p.Asn272=
ENST00000409170.3:c.300+3097T= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3097T=
ENST00000409338.5:c.177+6732T= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6732T=
ENST00000466414.1:n.141A= (GLA)
ENST00000468823.1:n.581A= (GLA)
ENST00000493905.6:c.*203A= (GLA) ENSP00000476935.1:n.*203A=
NM_000169.2:c.815A= , LRG_672t1:c.815A= (GLA) NP_000160.1:p.Asn272=
NM_001199973.1:c.408+3097T= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3097T=
NM_001199974.1:c.285+6732T= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6732T=
XR_938397.1:n.900A= (GLA)
XR_938397.2:n.921A= (GLA)
NM_001199973.2:c.300+3097T= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3097T=
NM_001199974.2:c.177+6732T= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6732T=
NM_000169.3:c.815A= (GLA) MANE Select NP_000160.1:p.Asn272=
NR_164783.1:n.894A= (GLA)