Canonical Allele Identifier: CA2448298034
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398508C= , CM000685.2:g.101398508C= GRCh38
NC_000023.10:g.100653496C= , CM000685.1:g.100653496C= GRCh37
NC_000023.9:g.100540152C= NCBI36
NG_007119.1:g.14456G= , LRG_672:g.14456G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*307G= (GLA) ENSP00000501124.2:n.*307G=
ENST00000674127.2:c.*364G= (GLA) ENSP00000501044.2:n.*364G=
ENST00000710365.1:c.936G= (GLA) ENSP00000518234.1:p.Trp312=
ENST00000218516.4:c.861G= (GLA) MANE Select ENSP00000218516.4:p.Trp287=
ENST00000466414.2:n.997G= (GLA)
ENST00000468823.2:n.2013G= (GLA)
ENST00000479445.2:n.1475G= (GLA)
ENST00000480513.6:c.*169G= (GLA) ENSP00000497055.1:n.*169G=
ENST00000486121.6:c.906G= (GLA)
ENST00000649178.1:c.984G= (GLA) ENSP00000498186.1:p.Trp328=
ENST00000674127.1:c.961G= (GLA) ENSP00000501044.1:n.961G=
ENST00000674142.1:n.1165G= (GLA)
ENST00000674634.2:c.861G= (GLA) ENSP00000502629.2:p.Trp287=
ENST00000675592.1:c.801+277G= (GLA) ENSP00000502239.1:n.801+277G=
ENST00000675799.1:c.*386G= (GLA) ENSP00000502661.1:n.*386G=
ENST00000675968.1:n.3732G= (GLA)
ENST00000676156.1:c.825G= (GLA) ENSP00000501730.1:p.Trp275=
ENST00000676372.1:c.927G= (GLA) ENSP00000502805.1:n.927G=
ENST00000218516.3:c.861G= (GLA) ENSP00000218516.3:p.Trp287=
ENST00000409170.3:c.300+3051C= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3051C=
ENST00000409338.5:c.177+6686C= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6686C=
ENST00000466414.1:n.187G= (GLA)
ENST00000493905.6:c.*249G= (GLA) ENSP00000476935.1:n.*249G=
NM_000169.2:c.861G= , LRG_672t1:c.861G= (GLA) NP_000160.1:p.Trp287=
NM_001199973.1:c.408+3051C= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3051C=
NM_001199974.1:c.285+6686C= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6686C=
XR_938397.1:n.946G= (GLA)
XR_938397.2:n.967G= (GLA)
NM_001199973.2:c.300+3051C= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3051C=
NM_001199974.2:c.177+6686C= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6686C=
NM_000169.3:c.861G= (GLA) MANE Select NP_000160.1:p.Trp287=
NR_164783.1:n.940G= (GLA)