Canonical Allele Identifier: CA022220
Community Standard Title: NM_000169.3(GLA):c.961C>G (p.Gln321Glu)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398408G>C , CM000685.2:g.101398408G>C GRCh38
NC_000023.10:g.100653396G>C , CM000685.1:g.100653396G>C GRCh37
NC_000023.9:g.100540052G>C NCBI36
NG_007119.1:g.14556C>G , LRG_672:g.14556C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.961C>G (GLA) MANE Select NP_000160.1:p.Gln321Glu
ENST00000218516.4:c.961C>G (GLA) MANE Select ENSP00000218516.4:p.Gln321Glu
NM_000169.2:c.961C>G , LRG_672t1:c.961C>G (GLA) NP_000160.1:p.Gln321Glu
NM_001199973.1:c.408+2951G>C (RPL36A-HNRNPH2) NP_001186902.1:n.408+2951G>C
NM_001199973.2:c.300+2951G>C (RPL36A-HNRNPH2) NP_001186902.2:n.300+2951G>C
NM_001199974.1:c.285+6586G>C (RPL36A-HNRNPH2) NP_001186903.1:n.285+6586G>C
NM_001199974.2:c.177+6586G>C (RPL36A-HNRNPH2) NP_001186903.2:n.177+6586G>C
NR_164783.1:n.1040C>G (GLA)
ENST00000218516.3:c.961C>G (GLA) ENSP00000218516.3:p.Gln321Glu
ENST00000409170.3:c.300+2951G>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2951G>C
ENST00000409338.5:c.177+6586G>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6586G>C
ENST00000466414.1:n.287C>G (GLA)
ENST00000466414.2:n.1097C>G (GLA)
ENST00000468823.2:n.2113C>G (GLA)
ENST00000479445.2:n.1575C>G (GLA)
ENST00000480513.6:c.*269C>G (GLA) ENSP00000497055.1:n.*269C>G
ENST00000486121.6:c.1006C>G (GLA)
ENST00000486121.7:c.*407C>G (GLA) ENSP00000501124.2:n.*407C>G
ENST00000493905.6:c.*349C>G (GLA) ENSP00000476935.1:n.*349C>G
ENST00000649178.1:c.1084C>G (GLA) ENSP00000498186.1:p.Gln362Glu
ENST00000674127.1:c.1061C>G (GLA) ENSP00000501044.1:n.1061C>G
ENST00000674127.2:c.*464C>G (GLA) ENSP00000501044.2:n.*464C>G
ENST00000674142.1:n.1265C>G (GLA)
ENST00000674634.2:c.961C>G (GLA) ENSP00000502629.2:p.Gln321Glu
ENST00000675592.1:c.802-309C>G (GLA) ENSP00000502239.1:n.802-309C>G
ENST00000675799.1:c.*486C>G (GLA) ENSP00000502661.1:n.*486C>G
ENST00000675968.1:n.3832C>G (GLA)
ENST00000676156.1:c.925C>G (GLA) ENSP00000501730.1:p.Gln309Glu
ENST00000676372.1:c.1027C>G (GLA) ENSP00000502805.1:n.1027C>G
ENST00000710365.1:c.1036C>G (GLA) ENSP00000518234.1:p.Gln346Glu
XR_938397.1:n.1046C>G (GLA)
XR_938397.2:n.1067C>G (GLA)