Canonical Allele Identifier: CA413921800
Community Standard Title: NM_000169.3(GLA):c.936G>C (p.Gln312His)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398433C>G , CM000685.2:g.101398433C>G GRCh38
NC_000023.10:g.100653421C>G , CM000685.1:g.100653421C>G GRCh37
NC_000023.9:g.100540077C>G NCBI36
NG_007119.1:g.14531G>C , LRG_672:g.14531G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.936G>C (GLA) MANE Select NP_000160.1:p.Gln312His
ENST00000218516.4:c.936G>C (GLA) MANE Select ENSP00000218516.4:p.Gln312His
NM_000169.2:c.936G>C , LRG_672t1:c.936G>C (GLA) NP_000160.1:p.Gln312His
NM_001199973.1:c.408+2976C>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+2976C>G
NM_001199973.2:c.300+2976C>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+2976C>G
NM_001199974.1:c.285+6611C>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6611C>G
NM_001199974.2:c.177+6611C>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6611C>G
NR_164783.1:n.1015G>C (GLA)
ENST00000218516.3:c.936G>C (GLA) ENSP00000218516.3:p.Gln312His
ENST00000409170.3:c.300+2976C>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2976C>G
ENST00000409338.5:c.177+6611C>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6611C>G
ENST00000466414.1:n.262G>C (GLA)
ENST00000466414.2:n.1072G>C (GLA)
ENST00000468823.2:n.2088G>C (GLA)
ENST00000479445.2:n.1550G>C (GLA)
ENST00000480513.6:c.*244G>C (GLA) ENSP00000497055.1:n.*244G>C
ENST00000486121.6:c.981G>C (GLA)
ENST00000486121.7:c.*382G>C (GLA) ENSP00000501124.2:n.*382G>C
ENST00000493905.6:c.*324G>C (GLA) ENSP00000476935.1:n.*324G>C
ENST00000649178.1:c.1059G>C (GLA) ENSP00000498186.1:p.Gln353His
ENST00000674127.1:c.1036G>C (GLA) ENSP00000501044.1:n.1036G>C
ENST00000674127.2:c.*439G>C (GLA) ENSP00000501044.2:n.*439G>C
ENST00000674142.1:n.1240G>C (GLA)
ENST00000674634.2:c.936G>C (GLA) ENSP00000502629.2:p.Gln312His
ENST00000675592.1:c.802-334G>C (GLA) ENSP00000502239.1:n.802-334G>C
ENST00000675799.1:c.*461G>C (GLA) ENSP00000502661.1:n.*461G>C
ENST00000675968.1:n.3807G>C (GLA)
ENST00000676156.1:c.900G>C (GLA) ENSP00000501730.1:p.Gln300His
ENST00000676372.1:c.1002G>C (GLA) ENSP00000502805.1:n.1002G>C
ENST00000710365.1:c.1011G>C (GLA) ENSP00000518234.1:p.Gln337His
XR_938397.1:n.1021G>C (GLA)
XR_938397.2:n.1042G>C (GLA)