Canonical Allele Identifier: CA413921149
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398060A>C , CM000685.2:g.101398060A>C GRCh38
NC_000023.10:g.100653048A>C , CM000685.1:g.100653048A>C GRCh37
NC_000023.9:g.100539704A>C NCBI36
NG_007119.1:g.14904T>G , LRG_672:g.14904T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*485T>G (GLA) ENSP00000501124.2:n.*485T>G
ENST00000674127.2:c.*542T>G (GLA) ENSP00000501044.2:n.*542T>G
ENST00000710365.1:c.1114T>G (GLA) ENSP00000518234.1:p.Leu372Val
ENST00000218516.4:c.1039T>G (GLA) MANE Select ENSP00000218516.4:p.Leu347Val
ENST00000466414.2:n.1175T>G (GLA)
ENST00000468823.2:n.2461T>G (GLA)
ENST00000479445.2:n.1653T>G (GLA)
ENST00000480513.6:c.*347T>G (GLA) ENSP00000497055.1:n.*347T>G
ENST00000486121.6:c.1084T>G (GLA)
ENST00000649178.1:c.1162T>G (GLA) ENSP00000498186.1:p.Leu388Val
ENST00000674127.1:c.1139T>G (GLA) ENSP00000501044.1:n.1139T>G
ENST00000674142.1:n.1343T>G (GLA)
ENST00000675592.1:c.841T>G (GLA) ENSP00000502239.1:p.Leu281Val
ENST00000675799.1:c.*564T>G (GLA) ENSP00000502661.1:n.*564T>G
ENST00000675968.1:n.3910T>G (GLA)
ENST00000676156.1:c.1003T>G (GLA) ENSP00000501730.1:p.Leu335Val
ENST00000676372.1:c.1105T>G (GLA) ENSP00000502805.1:n.1105T>G
ENST00000218516.3:c.1039T>G (GLA) ENSP00000218516.3:p.Leu347Val
ENST00000409170.3:c.300+2603A>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2603A>C
ENST00000409338.5:c.177+6238A>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6238A>C
ENST00000466414.1:n.365T>G (GLA)
ENST00000493905.6:c.*427T>G (GLA) ENSP00000476935.1:n.*427T>G
NM_000169.2:c.1039T>G , LRG_672t1:c.1039T>G (GLA) NP_000160.1:p.Leu347Val
NM_001199973.1:c.408+2603A>C (RPL36A-HNRNPH2) NP_001186902.1:n.408+2603A>C
NM_001199974.1:c.285+6238A>C (RPL36A-HNRNPH2) NP_001186903.1:n.285+6238A>C
XR_938397.1:n.1124T>G (GLA)
XR_938397.2:n.1145T>G (GLA)
NM_001199973.2:c.300+2603A>C (RPL36A-HNRNPH2) NP_001186902.2:n.300+2603A>C
NM_001199974.2:c.177+6238A>C (RPL36A-HNRNPH2) NP_001186903.2:n.177+6238A>C
NM_000169.3:c.1039T>G (GLA) MANE Select NP_000160.1:p.Leu347Val
NR_164783.1:n.1118T>G (GLA)