Canonical Allele Identifier: CA2448298017
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398482A= , CM000685.2:g.101398482A= GRCh38
NC_000023.10:g.100653470A= , CM000685.1:g.100653470A= GRCh37
NC_000023.9:g.100540126A= NCBI36
NG_007119.1:g.14482T= , LRG_672:g.14482T=

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*333T= (GLA) ENSP00000501124.2:n.*333T=
ENST00000674127.2:c.*390T= (GLA) ENSP00000501044.2:n.*390T=
ENST00000710365.1:c.962T= (GLA) ENSP00000518234.1:p.Met321=
ENST00000218516.4:c.887T= (GLA) MANE Select ENSP00000218516.4:p.Met296=
ENST00000466414.2:n.1023T= (GLA)
ENST00000468823.2:n.2039T= (GLA)
ENST00000479445.2:n.1501T= (GLA)
ENST00000480513.6:c.*195T= (GLA) ENSP00000497055.1:n.*195T=
ENST00000486121.6:c.932T= (GLA)
ENST00000649178.1:c.1010T= (GLA) ENSP00000498186.1:p.Met337=
ENST00000674127.1:c.987T= (GLA) ENSP00000501044.1:n.987T=
ENST00000674142.1:n.1191T= (GLA)
ENST00000674634.2:c.887T= (GLA) ENSP00000502629.2:p.Met296=
ENST00000675592.1:c.801+303T= (GLA) ENSP00000502239.1:n.801+303T=
ENST00000675799.1:c.*412T= (GLA) ENSP00000502661.1:n.*412T=
ENST00000675968.1:n.3758T= (GLA)
ENST00000676156.1:c.851T= (GLA) ENSP00000501730.1:p.Met284=
ENST00000676372.1:c.953T= (GLA) ENSP00000502805.1:n.953T=
ENST00000218516.3:c.887T= (GLA) ENSP00000218516.3:p.Met296=
ENST00000409170.3:c.300+3025A= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3025A=
ENST00000409338.5:c.177+6660A= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6660A=
ENST00000466414.1:n.213T= (GLA)
ENST00000493905.6:c.*275T= (GLA) ENSP00000476935.1:n.*275T=
NM_000169.2:c.887T= , LRG_672t1:c.887T= (GLA) NP_000160.1:p.Met296=
NM_001199973.1:c.408+3025A= (RPL36A-HNRNPH2) NP_001186902.1:n.408+3025A=
NM_001199974.1:c.285+6660A= (RPL36A-HNRNPH2) NP_001186903.1:n.285+6660A=
XR_938397.1:n.972T= (GLA)
XR_938397.2:n.993T= (GLA)
NM_001199973.2:c.300+3025A= (RPL36A-HNRNPH2) NP_001186902.2:n.300+3025A=
NM_001199974.2:c.177+6660A= (RPL36A-HNRNPH2) NP_001186903.2:n.177+6660A=
NM_000169.3:c.887T= (GLA) MANE Select NP_000160.1:p.Met296=
NR_164783.1:n.966T= (GLA)