Canonical Allele Identifier: CA2448298030
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398504T= , CM000685.2:g.101398504T= GRCh38
NC_000023.10:g.100653492T= , CM000685.1:g.100653492T= GRCh37
NC_000023.9:g.100540148T= NCBI36
NG_007119.1:g.14460A= , LRG_672:g.14460A=

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.865A= (GLA) MANE Select NP_000160.1:p.Ile289=
ENST00000218516.4:c.865A= (GLA) MANE Select ENSP00000218516.4:p.Ile289=
NM_000169.2:c.865A= , LRG_672t1:c.865A= (GLA) NP_000160.1:p.Ile289=
NM_001199973.1:c.408+3047T= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3047T=
NM_001199973.2:c.300+3047T= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3047T=
NM_001199974.1:c.285+6682T= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6682T=
NM_001199974.2:c.177+6682T= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6682T=
NR_164783.1:n.944A= (GLA)
ENST00000218516.3:c.865A= (GLA) ENSP00000218516.3:p.Ile289=
ENST00000409170.3:c.300+3047T= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3047T=
ENST00000409338.5:c.177+6682T= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6682T=
ENST00000466414.1:n.191A= (GLA)
ENST00000466414.2:n.1001A= (GLA)
ENST00000468823.2:n.2017A= (GLA)
ENST00000479445.2:n.1479A= (GLA)
ENST00000480513.6:c.*173A= (GLA) ENSP00000497055.1:n.*173A=
ENST00000486121.6:c.910A= (GLA)
ENST00000486121.7:c.*311A= (GLA) ENSP00000501124.2:n.*311A=
ENST00000493905.6:c.*253A= (GLA) ENSP00000476935.1:n.*253A=
ENST00000649178.1:c.988A= (GLA) ENSP00000498186.1:p.Ile330=
ENST00000674127.1:c.965A= (GLA) ENSP00000501044.1:n.965A=
ENST00000674127.2:c.*368A= (GLA) ENSP00000501044.2:n.*368A=
ENST00000674142.1:n.1169A= (GLA)
ENST00000674634.2:c.865A= (GLA) ENSP00000502629.2:p.Ile289=
ENST00000675592.1:c.801+281A= (GLA) ENSP00000502239.1:n.801+281A=
ENST00000675799.1:c.*390A= (GLA) ENSP00000502661.1:n.*390A=
ENST00000675968.1:n.3736A= (GLA)
ENST00000676156.1:c.829A= (GLA) ENSP00000501730.1:p.Ile277=
ENST00000676372.1:c.931A= (GLA) ENSP00000502805.1:n.931A=
ENST00000710365.1:c.940A= (GLA) ENSP00000518234.1:p.Ile314=
XR_938397.1:n.950A= (GLA)
XR_938397.2:n.971A= (GLA)