Canonical Allele Identifier: CA352522
Community Standard Title: NM_000169.3(GLA):c.785G>A (p.Trp262Ter)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398801C>T , CM000685.2:g.101398801C>T GRCh38
NC_000023.10:g.100653789C>T , CM000685.1:g.100653789C>T GRCh37
NC_000023.9:g.100540445C>T NCBI36
NG_007119.1:g.14163G>A , LRG_672:g.14163G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.785G>A (GLA) MANE Select NP_000160.1:p.Trp262Ter
ENST00000218516.4:c.785G>A (GLA) MANE Select ENSP00000218516.4:p.Trp262Ter
NM_000169.2:c.785G>A , LRG_672t1:c.785G>A (GLA) NP_000160.1:p.Trp262Ter
NM_001199973.1:c.408+3344C>T (RPL36A-HNRNPH2) NP_001186902.1:n.408+3344C>T
NM_001199973.2:c.300+3344C>T (RPL36A-HNRNPH2) NP_001186902.2:n.300+3344C>T
NM_001199974.1:c.285+6979C>T (RPL36A-HNRNPH2) NP_001186903.1:n.285+6979C>T
NM_001199974.2:c.177+6979C>T (RPL36A-HNRNPH2) NP_001186903.2:n.177+6979C>T
NR_164783.1:n.864G>A (GLA)
ENST00000218516.3:c.785G>A (GLA) ENSP00000218516.3:p.Trp262Ter
ENST00000409170.3:c.300+3344C>T (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3344C>T
ENST00000409338.5:c.177+6979C>T (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6979C>T
ENST00000466414.2:n.704G>A (GLA)
ENST00000468823.1:n.334G>A (GLA)
ENST00000468823.2:n.1720G>A (GLA)
ENST00000479445.2:n.1182G>A (GLA)
ENST00000480513.6:c.*93G>A (GLA) ENSP00000497055.1:n.*93G>A
ENST00000486121.6:c.830G>A (GLA)
ENST00000486121.7:c.*231G>A (GLA) ENSP00000501124.2:n.*231G>A
ENST00000493905.6:c.*173G>A (GLA) ENSP00000476935.1:n.*173G>A
ENST00000649178.1:c.908G>A (GLA) ENSP00000498186.1:p.Trp303Ter
ENST00000674127.1:c.885G>A (GLA) ENSP00000501044.1:n.885G>A
ENST00000674127.2:c.*288G>A (GLA) ENSP00000501044.2:n.*288G>A
ENST00000674142.1:n.872G>A (GLA)
ENST00000674634.2:c.785G>A (GLA) ENSP00000502629.2:p.Trp262Ter
ENST00000675592.1:c.785G>A (GLA) ENSP00000502239.1:p.Trp262Ter
ENST00000675799.1:c.*93G>A (GLA) ENSP00000502661.1:n.*93G>A
ENST00000675968.1:n.3439G>A (GLA)
ENST00000676156.1:c.749G>A (GLA) ENSP00000501730.1:p.Trp250Ter
ENST00000676372.1:c.785G>A (GLA) ENSP00000502805.1:p.Trp262Ter
ENST00000710365.1:c.860G>A (GLA) ENSP00000518234.1:p.Trp287Ter
XR_938397.1:n.870G>A (GLA)
XR_938397.2:n.891G>A (GLA)