Canonical Allele Identifier: CA413920253
Community Standard Title: NM_000169.3(GLA):c.1145G>C (p.Cys382Ser)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397954C>G , CM000685.2:g.101397954C>G GRCh38
NC_000023.10:g.100652942C>G , CM000685.1:g.100652942C>G GRCh37
NC_000023.9:g.100539598C>G NCBI36
NG_007119.1:g.15010G>C , LRG_672:g.15010G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1145G>C (GLA) MANE Select NP_000160.1:p.Cys382Ser
ENST00000218516.4:c.1145G>C (GLA) MANE Select ENSP00000218516.4:p.Cys382Ser
NM_000169.2:c.1145G>C , LRG_672t1:c.1145G>C (GLA) NP_000160.1:p.Cys382Ser
NM_001199973.1:c.408+2497C>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+2497C>G
NM_001199973.2:c.300+2497C>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+2497C>G
NM_001199974.1:c.285+6132C>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6132C>G
NM_001199974.2:c.177+6132C>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6132C>G
NR_164783.1:n.1224G>C (GLA)
ENST00000218516.3:c.1145G>C (GLA) ENSP00000218516.3:p.Cys382Ser
ENST00000409170.3:c.300+2497C>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2497C>G
ENST00000409338.5:c.177+6132C>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6132C>G
ENST00000466414.1:n.471G>C (GLA)
ENST00000466414.2:n.1281G>C (GLA)
ENST00000468823.2:n.2567G>C (GLA)
ENST00000479445.2:n.1759G>C (GLA)
ENST00000480513.6:c.*453G>C (GLA) ENSP00000497055.1:n.*453G>C
ENST00000486121.6:c.1190G>C (GLA)
ENST00000486121.7:c.*591G>C (GLA) ENSP00000501124.2:n.*591G>C
ENST00000493905.6:c.*533G>C (GLA) ENSP00000476935.1:n.*533G>C
ENST00000649178.1:c.1268G>C (GLA) ENSP00000498186.1:p.Cys423Ser
ENST00000674127.1:c.1245G>C (GLA) ENSP00000501044.1:n.1245G>C
ENST00000674127.2:c.*648G>C (GLA) ENSP00000501044.2:n.*648G>C
ENST00000674142.1:n.1421+28G>C (GLA)
ENST00000675592.1:c.947G>C (GLA) ENSP00000502239.1:p.Cys316Ser
ENST00000675799.1:c.*670G>C (GLA) ENSP00000502661.1:n.*670G>C
ENST00000675968.1:n.4016G>C (GLA)
ENST00000676156.1:c.1109G>C (GLA) ENSP00000501730.1:p.Cys370Ser
ENST00000676372.1:c.1211G>C (GLA) ENSP00000502805.1:n.1211G>C
ENST00000710365.1:c.1220G>C (GLA) ENSP00000518234.1:p.Cys407Ser
XR_938397.1:n.1230G>C (GLA)
XR_938397.2:n.1251G>C (GLA)