Canonical Allele Identifier: CA413921601
Community Standard Title: NM_000169.3(GLA):c.956T>C (p.Ile319Thr)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398413A>G , CM000685.2:g.101398413A>G GRCh38
NC_000023.10:g.100653401A>G , CM000685.1:g.100653401A>G GRCh37
NC_000023.9:g.100540057A>G NCBI36
NG_007119.1:g.14551T>C , LRG_672:g.14551T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.956T>C (GLA) MANE Select NP_000160.1:p.Ile319Thr
ENST00000218516.4:c.956T>C (GLA) MANE Select ENSP00000218516.4:p.Ile319Thr
NM_000169.2:c.956T>C , LRG_672t1:c.956T>C (GLA) NP_000160.1:p.Ile319Thr
NM_001199973.1:c.408+2956A>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+2956A>G
NM_001199973.2:c.300+2956A>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+2956A>G
NM_001199974.1:c.285+6591A>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6591A>G
NM_001199974.2:c.177+6591A>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6591A>G
NR_164783.1:n.1035T>C (GLA)
ENST00000218516.3:c.956T>C (GLA) ENSP00000218516.3:p.Ile319Thr
ENST00000409170.3:c.300+2956A>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2956A>G
ENST00000409338.5:c.177+6591A>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6591A>G
ENST00000466414.1:n.282T>C (GLA)
ENST00000466414.2:n.1092T>C (GLA)
ENST00000468823.2:n.2108T>C (GLA)
ENST00000479445.2:n.1570T>C (GLA)
ENST00000480513.6:c.*264T>C (GLA) ENSP00000497055.1:n.*264T>C
ENST00000486121.6:c.1001T>C (GLA)
ENST00000486121.7:c.*402T>C (GLA) ENSP00000501124.2:n.*402T>C
ENST00000493905.6:c.*344T>C (GLA) ENSP00000476935.1:n.*344T>C
ENST00000649178.1:c.1079T>C (GLA) ENSP00000498186.1:p.Ile360Thr
ENST00000674127.1:c.1056T>C (GLA) ENSP00000501044.1:n.1056T>C
ENST00000674127.2:c.*459T>C (GLA) ENSP00000501044.2:n.*459T>C
ENST00000674142.1:n.1260T>C (GLA)
ENST00000674634.2:c.956T>C (GLA) ENSP00000502629.2:p.Ile319Thr
ENST00000675592.1:c.802-314T>C (GLA) ENSP00000502239.1:n.802-314T>C
ENST00000675799.1:c.*481T>C (GLA) ENSP00000502661.1:n.*481T>C
ENST00000675968.1:n.3827T>C (GLA)
ENST00000676156.1:c.920T>C (GLA) ENSP00000501730.1:p.Ile307Thr
ENST00000676372.1:c.1022T>C (GLA) ENSP00000502805.1:n.1022T>C
ENST00000710365.1:c.1031T>C (GLA) ENSP00000518234.1:p.Ile344Thr
XR_938397.1:n.1041T>C (GLA)
XR_938397.2:n.1062T>C (GLA)