Canonical Allele Identifier: CA352683
Community Standard Title: NM_000169.3(GLA):c.1246C>T (p.Gln416Ter)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397853G>A , CM000685.2:g.101397853G>A GRCh38
NC_000023.10:g.100652841G>A , CM000685.1:g.100652841G>A GRCh37
NC_000023.9:g.100539497G>A NCBI36
NG_007119.1:g.15111C>T , LRG_672:g.15111C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1246C>T (GLA) MANE Select NP_000160.1:p.Gln416Ter
ENST00000218516.4:c.1246C>T (GLA) MANE Select ENSP00000218516.4:p.Gln416Ter
NM_000169.2:c.1246C>T , LRG_672t1:c.1246C>T (GLA) NP_000160.1:p.Gln416Ter
NM_001199973.1:c.408+2396G>A (RPL36A-HNRNPH2) NP_001186902.1:n.408+2396G>A
NM_001199973.2:c.300+2396G>A (RPL36A-HNRNPH2) NP_001186902.2:n.300+2396G>A
NM_001199974.1:c.285+6031G>A (RPL36A-HNRNPH2) NP_001186903.1:n.285+6031G>A
NM_001199974.2:c.177+6031G>A (RPL36A-HNRNPH2) NP_001186903.2:n.177+6031G>A
NR_164783.1:n.1325C>T (GLA)
ENST00000218516.3:c.1246C>T (GLA) ENSP00000218516.3:p.Gln416Ter
ENST00000409170.3:c.300+2396G>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2396G>A
ENST00000409338.5:c.177+6031G>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6031G>A
ENST00000466414.1:n.572C>T (GLA)
ENST00000466414.2:n.1382C>T (GLA)
ENST00000468823.2:n.2668C>T (GLA)
ENST00000479445.2:n.1860C>T (GLA)
ENST00000493905.6:c.*634C>T (GLA) ENSP00000476935.1:n.*634C>T
ENST00000649178.1:c.1369C>T (GLA) ENSP00000498186.1:p.Gln457Ter
ENST00000674127.1:c.1346C>T (GLA) ENSP00000501044.1:n.1346C>T
ENST00000674127.2:c.*749C>T (GLA) ENSP00000501044.2:n.*749C>T
ENST00000674142.1:n.1421+129C>T (GLA)
ENST00000675592.1:c.1048C>T (GLA) ENSP00000502239.1:p.Gln350Ter
ENST00000675968.1:n.4117C>T (GLA)
ENST00000676156.1:c.1210C>T (GLA) ENSP00000501730.1:p.Gln404Ter
ENST00000676372.1:c.1312C>T (GLA) ENSP00000502805.1:n.1312C>T
ENST00000710365.1:c.1321C>T (GLA) ENSP00000518234.1:p.Gln441Ter
XR_938397.1:n.1331C>T (GLA)
XR_938397.2:n.1352C>T (GLA)