Canonical Allele Identifier: CA352747
Community Standard Title: NM_000169.3(GLA):c.1069C>T (p.Gln357Ter)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398030G>A , CM000685.2:g.101398030G>A GRCh38
NC_000023.10:g.100653018G>A , CM000685.1:g.100653018G>A GRCh37
NC_000023.9:g.100539674G>A NCBI36
NG_007119.1:g.14934C>T , LRG_672:g.14934C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1069C>T (GLA) MANE Select NP_000160.1:p.Gln357Ter
ENST00000218516.4:c.1069C>T (GLA) MANE Select ENSP00000218516.4:p.Gln357Ter
NM_000169.2:c.1069C>T , LRG_672t1:c.1069C>T (GLA) NP_000160.1:p.Gln357Ter
NM_001199973.1:c.408+2573G>A (RPL36A-HNRNPH2) NP_001186902.1:n.408+2573G>A
NM_001199973.2:c.300+2573G>A (RPL36A-HNRNPH2) NP_001186902.2:n.300+2573G>A
NM_001199974.1:c.285+6208G>A (RPL36A-HNRNPH2) NP_001186903.1:n.285+6208G>A
NM_001199974.2:c.177+6208G>A (RPL36A-HNRNPH2) NP_001186903.2:n.177+6208G>A
NR_164783.1:n.1148C>T (GLA)
ENST00000218516.3:c.1069C>T (GLA) ENSP00000218516.3:p.Gln357Ter
ENST00000409170.3:c.300+2573G>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2573G>A
ENST00000409338.5:c.177+6208G>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6208G>A
ENST00000466414.1:n.395C>T (GLA)
ENST00000466414.2:n.1205C>T (GLA)
ENST00000468823.2:n.2491C>T (GLA)
ENST00000479445.2:n.1683C>T (GLA)
ENST00000480513.6:c.*377C>T (GLA) ENSP00000497055.1:n.*377C>T
ENST00000486121.6:c.1114C>T (GLA)
ENST00000486121.7:c.*515C>T (GLA) ENSP00000501124.2:n.*515C>T
ENST00000493905.6:c.*457C>T (GLA) ENSP00000476935.1:n.*457C>T
ENST00000649178.1:c.1192C>T (GLA) ENSP00000498186.1:p.Gln398Ter
ENST00000674127.1:c.1169C>T (GLA) ENSP00000501044.1:n.1169C>T
ENST00000674127.2:c.*572C>T (GLA) ENSP00000501044.2:n.*572C>T
ENST00000674142.1:n.1373C>T (GLA)
ENST00000675592.1:c.871C>T (GLA) ENSP00000502239.1:p.Gln291Ter
ENST00000675799.1:c.*594C>T (GLA) ENSP00000502661.1:n.*594C>T
ENST00000675968.1:n.3940C>T (GLA)
ENST00000676156.1:c.1033C>T (GLA) ENSP00000501730.1:p.Gln345Ter
ENST00000676372.1:c.1135C>T (GLA) ENSP00000502805.1:n.1135C>T
ENST00000710365.1:c.1144C>T (GLA) ENSP00000518234.1:p.Gln382Ter
XR_938397.1:n.1154C>T (GLA)
XR_938397.2:n.1175C>T (GLA)