Canonical Allele Identifier: CA352670
Community Standard Title: NM_000169.3(GLA):c.796G>A (p.Asp266Asn)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398790C>T , CM000685.2:g.101398790C>T GRCh38
NC_000023.10:g.100653778C>T , CM000685.1:g.100653778C>T GRCh37
NC_000023.9:g.100540434C>T NCBI36
NG_007119.1:g.14174G>A , LRG_672:g.14174G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.796G>A (GLA) MANE Select NP_000160.1:p.Asp266Asn
ENST00000218516.4:c.796G>A (GLA) MANE Select ENSP00000218516.4:p.Asp266Asn
NM_000169.2:c.796G>A , LRG_672t1:c.796G>A (GLA) NP_000160.1:p.Asp266Asn
NM_001199973.1:c.408+3333C>T (RPL36A-HNRNPH2) NP_001186902.1:n.408+3333C>T
NM_001199973.2:c.300+3333C>T (RPL36A-HNRNPH2) NP_001186902.2:n.300+3333C>T
NM_001199974.1:c.285+6968C>T (RPL36A-HNRNPH2) NP_001186903.1:n.285+6968C>T
NM_001199974.2:c.177+6968C>T (RPL36A-HNRNPH2) NP_001186903.2:n.177+6968C>T
NR_164783.1:n.875G>A (GLA)
ENST00000218516.3:c.796G>A (GLA) ENSP00000218516.3:p.Asp266Asn
ENST00000409170.3:c.300+3333C>T (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3333C>T
ENST00000409338.5:c.177+6968C>T (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6968C>T
ENST00000466414.2:n.715G>A (GLA)
ENST00000468823.1:n.345G>A (GLA)
ENST00000468823.2:n.1731G>A (GLA)
ENST00000479445.2:n.1193G>A (GLA)
ENST00000480513.6:c.*104G>A (GLA) ENSP00000497055.1:n.*104G>A
ENST00000486121.6:c.841G>A (GLA)
ENST00000486121.7:c.*242G>A (GLA) ENSP00000501124.2:n.*242G>A
ENST00000493905.6:c.*184G>A (GLA) ENSP00000476935.1:n.*184G>A
ENST00000649178.1:c.919G>A (GLA) ENSP00000498186.1:p.Asp307Asn
ENST00000674127.1:c.896G>A (GLA) ENSP00000501044.1:n.896G>A
ENST00000674127.2:c.*299G>A (GLA) ENSP00000501044.2:n.*299G>A
ENST00000674142.1:n.883G>A (GLA)
ENST00000674634.2:c.796G>A (GLA) ENSP00000502629.2:p.Asp266Asn
ENST00000675592.1:c.796G>A (GLA) ENSP00000502239.1:p.Asp266Asn
ENST00000675799.1:c.*104G>A (GLA) ENSP00000502661.1:n.*104G>A
ENST00000675968.1:n.3450G>A (GLA)
ENST00000676156.1:c.760G>A (GLA) ENSP00000501730.1:p.Asp254Asn
ENST00000676372.1:c.796G>A (GLA) ENSP00000502805.1:p.Asp266Asn
ENST00000710365.1:c.871G>A (GLA) ENSP00000518234.1:p.Asp291Asn
XR_938397.1:n.881G>A (GLA)
XR_938397.2:n.902G>A (GLA)