Canonical Allele Identifier: CA021486
Community Standard Title: NM_000169.3(GLA):c.1247A>C (p.Gln416Pro)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397852T>G , CM000685.2:g.101397852T>G GRCh38
NC_000023.10:g.100652840T>G , CM000685.1:g.100652840T>G GRCh37
NC_000023.9:g.100539496T>G NCBI36
NG_007119.1:g.15112A>C , LRG_672:g.15112A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1247A>C (GLA) MANE Select NP_000160.1:p.Gln416Pro
ENST00000218516.4:c.1247A>C (GLA) MANE Select ENSP00000218516.4:p.Gln416Pro
NM_000169.2:c.1247A>C , LRG_672t1:c.1247A>C (GLA) NP_000160.1:p.Gln416Pro
NM_001199973.1:c.408+2395T>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+2395T>G
NM_001199973.2:c.300+2395T>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+2395T>G
NM_001199974.1:c.285+6030T>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6030T>G
NM_001199974.2:c.177+6030T>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6030T>G
NR_164783.1:n.1326A>C (GLA)
ENST00000218516.3:c.1247A>C (GLA) ENSP00000218516.3:p.Gln416Pro
ENST00000409170.3:c.300+2395T>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2395T>G
ENST00000409338.5:c.177+6030T>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6030T>G
ENST00000466414.1:n.573A>C (GLA)
ENST00000466414.2:n.1383A>C (GLA)
ENST00000468823.2:n.2669A>C (GLA)
ENST00000479445.2:n.1861A>C (GLA)
ENST00000493905.6:c.*635A>C (GLA) ENSP00000476935.1:n.*635A>C
ENST00000649178.1:c.1370A>C (GLA) ENSP00000498186.1:p.Gln457Pro
ENST00000674127.1:c.1347A>C (GLA) ENSP00000501044.1:n.1347A>C
ENST00000674127.2:c.*750A>C (GLA) ENSP00000501044.2:n.*750A>C
ENST00000674142.1:n.1421+130A>C (GLA)
ENST00000675592.1:c.1049A>C (GLA) ENSP00000502239.1:p.Gln350Pro
ENST00000675968.1:n.4118A>C (GLA)
ENST00000676156.1:c.1211A>C (GLA) ENSP00000501730.1:p.Gln404Pro
ENST00000676372.1:c.1313A>C (GLA) ENSP00000502805.1:n.1313A>C
ENST00000710365.1:c.1322A>C (GLA) ENSP00000518234.1:p.Gln441Pro
XR_938397.1:n.1332A>C (GLA)
XR_938397.2:n.1353A>C (GLA)