Canonical Allele Identifier: CA352566
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 222145
dbSNP Id: rs869312227

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397981C>T , CM000685.2:g.101397981C>T GRCh38
NC_000023.10:g.100652969C>T , CM000685.1:g.100652969C>T GRCh37
NC_000023.9:g.100539625C>T NCBI36
NG_007119.1:g.14983G>A , LRG_672:g.14983G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*564G>A (GLA) ENSP00000501124.2:n.*564G>A
ENST00000674127.2:c.*621G>A (GLA) ENSP00000501044.2:n.*621G>A
ENST00000710365.1:c.1193G>A (GLA) ENSP00000518234.1:p.Gly398Asp
ENST00000218516.4:c.1118G>A (GLA) MANE Select ENSP00000218516.4:p.Gly373Asp
ENST00000466414.2:n.1254G>A (GLA)
ENST00000468823.2:n.2540G>A (GLA)
ENST00000479445.2:n.1732G>A (GLA)
ENST00000480513.6:c.*426G>A (GLA) ENSP00000497055.1:n.*426G>A
ENST00000486121.6:c.1163G>A (GLA)
ENST00000649178.1:c.1241G>A (GLA) ENSP00000498186.1:p.Gly414Asp
ENST00000674127.1:c.1218G>A (GLA) ENSP00000501044.1:n.1218G>A
ENST00000674142.1:n.1421+1G>A (GLA)
ENST00000675592.1:c.920G>A (GLA) ENSP00000502239.1:p.Gly307Asp
ENST00000675799.1:c.*643G>A (GLA) ENSP00000502661.1:n.*643G>A
ENST00000675968.1:n.3989G>A (GLA)
ENST00000676156.1:c.1082G>A (GLA) ENSP00000501730.1:p.Gly361Asp
ENST00000676372.1:c.1184G>A (GLA) ENSP00000502805.1:n.1184G>A
ENST00000218516.3:c.1118G>A (GLA) ENSP00000218516.3:p.Gly373Asp
ENST00000409170.3:c.300+2524C>T (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2524C>T
ENST00000409338.5:c.177+6159C>T (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6159C>T
ENST00000466414.1:n.444G>A (GLA)
ENST00000493905.6:c.*506G>A (GLA) ENSP00000476935.1:n.*506G>A
NM_000169.2:c.1118G>A , LRG_672t1:c.1118G>A (GLA) NP_000160.1:p.Gly373Asp
NM_001199973.1:c.408+2524C>T (RPL36A-HNRNPH2) NP_001186902.1:n.408+2524C>T
NM_001199974.1:c.285+6159C>T (RPL36A-HNRNPH2) NP_001186903.1:n.285+6159C>T
XR_938397.1:n.1203G>A (GLA)
XR_938397.2:n.1224G>A (GLA)
NM_001199973.2:c.300+2524C>T (RPL36A-HNRNPH2) NP_001186902.2:n.300+2524C>T
NM_001199974.2:c.177+6159C>T (RPL36A-HNRNPH2) NP_001186903.2:n.177+6159C>T
NM_000169.3:c.1118G>A (GLA) MANE Select NP_000160.1:p.Gly373Asp
NR_164783.1:n.1197G>A (GLA)