Canonical Allele Identifier: CA413922915
Community Standard Title: NM_000169.3(GLA):c.848A>G (p.Gln283Arg)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398521T>C , CM000685.2:g.101398521T>C GRCh38
NC_000023.10:g.100653509T>C , CM000685.1:g.100653509T>C GRCh37
NC_000023.9:g.100540165T>C NCBI36
NG_007119.1:g.14443A>G , LRG_672:g.14443A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.848A>G (GLA) MANE Select NP_000160.1:p.Gln283Arg
ENST00000218516.4:c.848A>G (GLA) MANE Select ENSP00000218516.4:p.Gln283Arg
NM_000169.2:c.848A>G , LRG_672t1:c.848A>G (GLA) NP_000160.1:p.Gln283Arg
NM_001199973.1:c.408+3064T>C (RPL36A-HNRNPH2) NP_001186902.1:n.408+3064T>C
NM_001199973.2:c.300+3064T>C (RPL36A-HNRNPH2) NP_001186902.2:n.300+3064T>C
NM_001199974.1:c.285+6699T>C (RPL36A-HNRNPH2) NP_001186903.1:n.285+6699T>C
NM_001199974.2:c.177+6699T>C (RPL36A-HNRNPH2) NP_001186903.2:n.177+6699T>C
NR_164783.1:n.927A>G (GLA)
ENST00000218516.3:c.848A>G (GLA) ENSP00000218516.3:p.Gln283Arg
ENST00000409170.3:c.300+3064T>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3064T>C
ENST00000409338.5:c.177+6699T>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6699T>C
ENST00000466414.1:n.174A>G (GLA)
ENST00000466414.2:n.984A>G (GLA)
ENST00000468823.1:n.614A>G (GLA)
ENST00000468823.2:n.2000A>G (GLA)
ENST00000479445.2:n.1462A>G (GLA)
ENST00000480513.6:c.*156A>G (GLA) ENSP00000497055.1:n.*156A>G
ENST00000486121.6:c.893A>G (GLA)
ENST00000486121.7:c.*294A>G (GLA) ENSP00000501124.2:n.*294A>G
ENST00000493905.6:c.*236A>G (GLA) ENSP00000476935.1:n.*236A>G
ENST00000649178.1:c.971A>G (GLA) ENSP00000498186.1:p.Gln324Arg
ENST00000674127.1:c.948A>G (GLA) ENSP00000501044.1:n.948A>G
ENST00000674127.2:c.*351A>G (GLA) ENSP00000501044.2:n.*351A>G
ENST00000674142.1:n.1152A>G (GLA)
ENST00000674634.2:c.848A>G (GLA) ENSP00000502629.2:p.Gln283Arg
ENST00000675592.1:c.801+264A>G (GLA) ENSP00000502239.1:n.801+264A>G
ENST00000675799.1:c.*373A>G (GLA) ENSP00000502661.1:n.*373A>G
ENST00000675968.1:n.3719A>G (GLA)
ENST00000676156.1:c.812A>G (GLA) ENSP00000501730.1:p.Gln271Arg
ENST00000676372.1:c.914A>G (GLA) ENSP00000502805.1:n.914A>G
ENST00000710365.1:c.923A>G (GLA) ENSP00000518234.1:p.Gln308Arg
XR_938397.1:n.933A>G (GLA)
XR_938397.2:n.954A>G (GLA)