Canonical Allele Identifier: CA413922331
Community Standard Title: NM_000169.3(GLA):c.893A>G (p.Asn298Ser)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398476T>C , CM000685.2:g.101398476T>C GRCh38
NC_000023.10:g.100653464T>C , CM000685.1:g.100653464T>C GRCh37
NC_000023.9:g.100540120T>C NCBI36
NG_007119.1:g.14488A>G , LRG_672:g.14488A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.893A>G (GLA) MANE Select NP_000160.1:p.Asn298Ser
ENST00000218516.4:c.893A>G (GLA) MANE Select ENSP00000218516.4:p.Asn298Ser
NM_000169.2:c.893A>G , LRG_672t1:c.893A>G (GLA) NP_000160.1:p.Asn298Ser
NM_001199973.1:c.408+3019T>C (RPL36A-HNRNPH2) NP_001186902.1:n.408+3019T>C
NM_001199973.2:c.300+3019T>C (RPL36A-HNRNPH2) NP_001186902.2:n.300+3019T>C
NM_001199974.1:c.285+6654T>C (RPL36A-HNRNPH2) NP_001186903.1:n.285+6654T>C
NM_001199974.2:c.177+6654T>C (RPL36A-HNRNPH2) NP_001186903.2:n.177+6654T>C
NR_164783.1:n.972A>G (GLA)
ENST00000218516.3:c.893A>G (GLA) ENSP00000218516.3:p.Asn298Ser
ENST00000409170.3:c.300+3019T>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3019T>C
ENST00000409338.5:c.177+6654T>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6654T>C
ENST00000466414.1:n.219A>G (GLA)
ENST00000466414.2:n.1029A>G (GLA)
ENST00000468823.2:n.2045A>G (GLA)
ENST00000479445.2:n.1507A>G (GLA)
ENST00000480513.6:c.*201A>G (GLA) ENSP00000497055.1:n.*201A>G
ENST00000486121.6:c.938A>G (GLA)
ENST00000486121.7:c.*339A>G (GLA) ENSP00000501124.2:n.*339A>G
ENST00000493905.6:c.*281A>G (GLA) ENSP00000476935.1:n.*281A>G
ENST00000649178.1:c.1016A>G (GLA) ENSP00000498186.1:p.Asn339Ser
ENST00000674127.1:c.993A>G (GLA) ENSP00000501044.1:n.993A>G
ENST00000674127.2:c.*396A>G (GLA) ENSP00000501044.2:n.*396A>G
ENST00000674142.1:n.1197A>G (GLA)
ENST00000674634.2:c.893A>G (GLA) ENSP00000502629.2:p.Asn298Ser
ENST00000675592.1:c.801+309A>G (GLA) ENSP00000502239.1:n.801+309A>G
ENST00000675799.1:c.*418A>G (GLA) ENSP00000502661.1:n.*418A>G
ENST00000675968.1:n.3764A>G (GLA)
ENST00000676156.1:c.857A>G (GLA) ENSP00000501730.1:p.Asn286Ser
ENST00000676372.1:c.959A>G (GLA) ENSP00000502805.1:n.959A>G
ENST00000710365.1:c.968A>G (GLA) ENSP00000518234.1:p.Asn323Ser
XR_938397.1:n.978A>G (GLA)
XR_938397.2:n.999A>G (GLA)