Canonical Allele Identifier: CA413920866
Community Standard Title: NM_000169.3(GLA):c.1072G>T (p.Glu358Ter)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398027C>A , CM000685.2:g.101398027C>A GRCh38
NC_000023.10:g.100653015C>A , CM000685.1:g.100653015C>A GRCh37
NC_000023.9:g.100539671C>A NCBI36
NG_007119.1:g.14937G>T , LRG_672:g.14937G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1072G>T (GLA) MANE Select NP_000160.1:p.Glu358Ter
ENST00000218516.4:c.1072G>T (GLA) MANE Select ENSP00000218516.4:p.Glu358Ter
NM_000169.2:c.1072G>T , LRG_672t1:c.1072G>T (GLA) NP_000160.1:p.Glu358Ter
NM_001199973.1:c.408+2570C>A (RPL36A-HNRNPH2) NP_001186902.1:n.408+2570C>A
NM_001199973.2:c.300+2570C>A (RPL36A-HNRNPH2) NP_001186902.2:n.300+2570C>A
NM_001199974.1:c.285+6205C>A (RPL36A-HNRNPH2) NP_001186903.1:n.285+6205C>A
NM_001199974.2:c.177+6205C>A (RPL36A-HNRNPH2) NP_001186903.2:n.177+6205C>A
NR_164783.1:n.1151G>T (GLA)
ENST00000218516.3:c.1072G>T (GLA) ENSP00000218516.3:p.Glu358Ter
ENST00000409170.3:c.300+2570C>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2570C>A
ENST00000409338.5:c.177+6205C>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6205C>A
ENST00000466414.1:n.398G>T (GLA)
ENST00000466414.2:n.1208G>T (GLA)
ENST00000468823.2:n.2494G>T (GLA)
ENST00000479445.2:n.1686G>T (GLA)
ENST00000480513.6:c.*380G>T (GLA) ENSP00000497055.1:n.*380G>T
ENST00000486121.6:c.1117G>T (GLA)
ENST00000486121.7:c.*518G>T (GLA) ENSP00000501124.2:n.*518G>T
ENST00000493905.6:c.*460G>T (GLA) ENSP00000476935.1:n.*460G>T
ENST00000649178.1:c.1195G>T (GLA) ENSP00000498186.1:p.Glu399Ter
ENST00000674127.1:c.1172G>T (GLA) ENSP00000501044.1:n.1172G>T
ENST00000674127.2:c.*575G>T (GLA) ENSP00000501044.2:n.*575G>T
ENST00000674142.1:n.1376G>T (GLA)
ENST00000675592.1:c.874G>T (GLA) ENSP00000502239.1:p.Glu292Ter
ENST00000675799.1:c.*597G>T (GLA) ENSP00000502661.1:n.*597G>T
ENST00000675968.1:n.3943G>T (GLA)
ENST00000676156.1:c.1036G>T (GLA) ENSP00000501730.1:p.Glu346Ter
ENST00000676372.1:c.1138G>T (GLA) ENSP00000502805.1:n.1138G>T
ENST00000710365.1:c.1147G>T (GLA) ENSP00000518234.1:p.Glu383Ter
XR_938397.1:n.1157G>T (GLA)
XR_938397.2:n.1178G>T (GLA)