Canonical Allele Identifier: CA2448297964
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398390G= , CM000685.2:g.101398390G= GRCh38
NC_000023.10:g.100653378G= , CM000685.1:g.100653378G= GRCh37
NC_000023.9:g.100540034G= NCBI36
NG_007119.1:g.14574C= , LRG_672:g.14574C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*425C= (GLA) ENSP00000501124.2:n.*425C=
ENST00000674127.2:c.*482C= (GLA) ENSP00000501044.2:n.*482C=
ENST00000710365.1:c.1054C= (GLA) ENSP00000518234.1:p.Gln352=
ENST00000218516.4:c.979C= (GLA) MANE Select ENSP00000218516.4:p.Gln327=
ENST00000466414.2:n.1115C= (GLA)
ENST00000468823.2:n.2131C= (GLA)
ENST00000479445.2:n.1593C= (GLA)
ENST00000480513.6:c.*287C= (GLA) ENSP00000497055.1:n.*287C=
ENST00000486121.6:c.1024C= (GLA)
ENST00000649178.1:c.1102C= (GLA) ENSP00000498186.1:p.Gln368=
ENST00000674127.1:c.1079C= (GLA) ENSP00000501044.1:n.1079C=
ENST00000674142.1:n.1283C= (GLA)
ENST00000674634.2:c.979C= (GLA) ENSP00000502629.2:p.Gln327=
ENST00000675592.1:c.802-291C= (GLA) ENSP00000502239.1:n.802-291C=
ENST00000675799.1:c.*504C= (GLA) ENSP00000502661.1:n.*504C=
ENST00000675968.1:n.3850C= (GLA)
ENST00000676156.1:c.943C= (GLA) ENSP00000501730.1:p.Gln315=
ENST00000676372.1:c.1045C= (GLA) ENSP00000502805.1:n.1045C=
ENST00000218516.3:c.979C= (GLA) ENSP00000218516.3:p.Gln327=
ENST00000409170.3:c.300+2933G= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2933G=
ENST00000409338.5:c.177+6568G= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6568G=
ENST00000466414.1:n.305C= (GLA)
ENST00000493905.6:c.*367C= (GLA) ENSP00000476935.1:n.*367C=
NM_000169.2:c.979C= , LRG_672t1:c.979C= (GLA) NP_000160.1:p.Gln327=
NM_001199973.1:c.408+2933G= (RPL36A-HNRNPH2) NP_001186902.1:n.408+2933G=
NM_001199974.1:c.285+6568G= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6568G=
XR_938397.1:n.1064C= (GLA)
XR_938397.2:n.1085C= (GLA)
NM_001199973.2:c.300+2933G= (RPL36A-HNRNPH2) NP_001186902.2:n.300+2933G=
NM_001199974.2:c.177+6568G= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6568G=
NM_000169.3:c.979C= (GLA) MANE Select NP_000160.1:p.Gln327=
NR_164783.1:n.1058C= (GLA)