Canonical Allele Identifier: CA029427
Community Standard Title: NM_000169.3(GLA):c.1001G>A (p.Gly334Glu)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398098C>T , CM000685.2:g.101398098C>T GRCh38
NC_000023.10:g.100653086C>T , CM000685.1:g.100653086C>T GRCh37
NC_000023.9:g.100539742C>T NCBI36
NG_007119.1:g.14866G>A , LRG_672:g.14866G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1001G>A (GLA) MANE Select NP_000160.1:p.Gly334Glu
ENST00000218516.4:c.1001G>A (GLA) MANE Select ENSP00000218516.4:p.Gly334Glu
NM_000169.2:c.1001G>A , LRG_672t1:c.1001G>A (GLA) NP_000160.1:p.Gly334Glu
NM_001199973.1:c.408+2641C>T (RPL36A-HNRNPH2) NP_001186902.1:n.408+2641C>T
NM_001199973.2:c.300+2641C>T (RPL36A-HNRNPH2) NP_001186902.2:n.300+2641C>T
NM_001199974.1:c.285+6276C>T (RPL36A-HNRNPH2) NP_001186903.1:n.285+6276C>T
NM_001199974.2:c.177+6276C>T (RPL36A-HNRNPH2) NP_001186903.2:n.177+6276C>T
NR_164783.1:n.1080G>A (GLA)
ENST00000218516.3:c.1001G>A (GLA) ENSP00000218516.3:p.Gly334Glu
ENST00000409170.3:c.300+2641C>T (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2641C>T
ENST00000409338.5:c.177+6276C>T (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6276C>T
ENST00000466414.1:n.327G>A (GLA)
ENST00000466414.2:n.1137G>A (GLA)
ENST00000468823.2:n.2423G>A (GLA)
ENST00000479445.2:n.1615G>A (GLA)
ENST00000480513.6:c.*309G>A (GLA) ENSP00000497055.1:n.*309G>A
ENST00000486121.6:c.1046G>A (GLA)
ENST00000486121.7:c.*447G>A (GLA) ENSP00000501124.2:n.*447G>A
ENST00000493905.6:c.*389G>A (GLA) ENSP00000476935.1:n.*389G>A
ENST00000649178.1:c.1124G>A (GLA) ENSP00000498186.1:p.Gly375Glu
ENST00000674127.1:c.1101G>A (GLA) ENSP00000501044.1:n.1101G>A
ENST00000674127.2:c.*504G>A (GLA) ENSP00000501044.2:n.*504G>A
ENST00000674142.1:n.1305G>A (GLA)
ENST00000675592.1:c.803G>A (GLA) ENSP00000502239.1:p.Gly268Glu
ENST00000675799.1:c.*526G>A (GLA) ENSP00000502661.1:n.*526G>A
ENST00000675968.1:n.3872G>A (GLA)
ENST00000676156.1:c.965G>A (GLA) ENSP00000501730.1:p.Gly322Glu
ENST00000676372.1:c.1067G>A (GLA) ENSP00000502805.1:n.1067G>A
ENST00000710365.1:c.1076G>A (GLA) ENSP00000518234.1:p.Gly359Glu
XR_938397.1:n.1086G>A (GLA)
XR_938397.2:n.1107G>A (GLA)