Canonical Allele Identifier: CA2448298166
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398810G= , CM000685.2:g.101398810G= GRCh38
NC_000023.10:g.100653798G= , CM000685.1:g.100653798G= GRCh37
NC_000023.9:g.100540454G= NCBI36
NG_007119.1:g.14154C= , LRG_672:g.14154C=

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*222C= (GLA) ENSP00000501124.2:n.*222C=
ENST00000674127.2:c.*279C= (GLA) ENSP00000501044.2:n.*279C=
ENST00000710365.1:c.851C= (GLA) ENSP00000518234.1:p.Pro284=
ENST00000218516.4:c.776C= (GLA) MANE Select ENSP00000218516.4:p.Pro259=
ENST00000466414.2:n.695C= (GLA)
ENST00000468823.2:n.1711C= (GLA)
ENST00000479445.2:n.1173C= (GLA)
ENST00000480513.6:c.*84C= (GLA) ENSP00000497055.1:n.*84C=
ENST00000486121.6:c.821C= (GLA)
ENST00000649178.1:c.899C= (GLA) ENSP00000498186.1:p.Pro300=
ENST00000674127.1:c.876C= (GLA) ENSP00000501044.1:n.876C=
ENST00000674142.1:n.863C= (GLA)
ENST00000674634.2:c.776C= (GLA) ENSP00000502629.2:p.Pro259=
ENST00000675592.1:c.776C= (GLA) ENSP00000502239.1:p.Pro259=
ENST00000675799.1:c.*84C= (GLA) ENSP00000502661.1:n.*84C=
ENST00000675968.1:n.3430C= (GLA)
ENST00000676156.1:c.740C= (GLA) ENSP00000501730.1:p.Pro247=
ENST00000676372.1:c.776C= (GLA) ENSP00000502805.1:p.Pro259=
ENST00000218516.3:c.776C= (GLA) ENSP00000218516.3:p.Pro259=
ENST00000409170.3:c.300+3353G= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3353G=
ENST00000409338.5:c.177+6988G= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6988G=
ENST00000468823.1:n.325C= (GLA)
ENST00000493905.6:c.*164C= (GLA) ENSP00000476935.1:n.*164C=
NM_000169.2:c.776C= , LRG_672t1:c.776C= (GLA) NP_000160.1:p.Pro259=
NM_001199973.1:c.408+3353G= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3353G=
NM_001199974.1:c.285+6988G= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6988G=
XR_938397.1:n.861C= (GLA)
XR_938397.2:n.882C= (GLA)
NM_001199973.2:c.300+3353G= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3353G=
NM_001199974.2:c.177+6988G= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6988G=
NM_000169.3:c.776C= (GLA) MANE Select NP_000160.1:p.Pro259=
NR_164783.1:n.855C= (GLA)