Canonical Allele Identifier: CA2448298022
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398491G= , CM000685.2:g.101398491G= GRCh38
NC_000023.10:g.100653479G= , CM000685.1:g.100653479G= GRCh37
NC_000023.9:g.100540135G= NCBI36
NG_007119.1:g.14473C= , LRG_672:g.14473C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*324C= (GLA) ENSP00000501124.2:n.*324C=
ENST00000674127.2:c.*381C= (GLA) ENSP00000501044.2:n.*381C=
ENST00000710365.1:c.953C= (GLA) ENSP00000518234.1:p.Pro318=
ENST00000218516.4:c.878C= (GLA) MANE Select ENSP00000218516.4:p.Pro293=
ENST00000466414.2:n.1014C= (GLA)
ENST00000468823.2:n.2030C= (GLA)
ENST00000479445.2:n.1492C= (GLA)
ENST00000480513.6:c.*186C= (GLA) ENSP00000497055.1:n.*186C=
ENST00000486121.6:c.923C= (GLA)
ENST00000649178.1:c.1001C= (GLA) ENSP00000498186.1:p.Pro334=
ENST00000674127.1:c.978C= (GLA) ENSP00000501044.1:n.978C=
ENST00000674142.1:n.1182C= (GLA)
ENST00000674634.2:c.878C= (GLA) ENSP00000502629.2:p.Pro293=
ENST00000675592.1:c.801+294C= (GLA) ENSP00000502239.1:n.801+294C=
ENST00000675799.1:c.*403C= (GLA) ENSP00000502661.1:n.*403C=
ENST00000675968.1:n.3749C= (GLA)
ENST00000676156.1:c.842C= (GLA) ENSP00000501730.1:p.Pro281=
ENST00000676372.1:c.944C= (GLA) ENSP00000502805.1:n.944C=
ENST00000218516.3:c.878C= (GLA) ENSP00000218516.3:p.Pro293=
ENST00000409170.3:c.300+3034G= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3034G=
ENST00000409338.5:c.177+6669G= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6669G=
ENST00000466414.1:n.204C= (GLA)
ENST00000493905.6:c.*266C= (GLA) ENSP00000476935.1:n.*266C=
NM_000169.2:c.878C= , LRG_672t1:c.878C= (GLA) NP_000160.1:p.Pro293=
NM_001199973.1:c.408+3034G= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3034G=
NM_001199974.1:c.285+6669G= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6669G=
XR_938397.1:n.963C= (GLA)
XR_938397.2:n.984C= (GLA)
NM_001199973.2:c.300+3034G= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3034G=
NM_001199974.2:c.177+6669G= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6669G=
NM_000169.3:c.878C= (GLA) MANE Select NP_000160.1:p.Pro293=
NR_164783.1:n.957C= (GLA)