Canonical Allele Identifier: CA2448297763
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397753A= , CM000685.2:g.101397753A= GRCh38
NC_000023.10:g.100652741A= , CM000685.1:g.100652741A= GRCh37
NC_000023.9:g.100539397A= NCBI36
NG_007119.1:g.15211T= , LRG_672:g.15211T=
NG_012523.1:g.11794A=

Transcript Alleles

HGVS Amino-acid change
ENST00000710365.1:c.*56T= (GLA) ENSP00000518234.1:n.*56T=
ENST00000468823.2:n.2768T= (GLA)
ENST00000674142.1:n.1421+229T= (GLA)
ENST00000409170.3:c.300+2296A= (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2296A=
ENST00000409338.5:c.177+5931A= (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+5931A=
NM_001199973.1:c.408+2296A= (RPL36A-HNRNPH2) NP_001186902.1:n.408+2296A=
NM_001199974.1:c.285+5931A= (RPL36A-HNRNPH2) NP_001186903.1:n.285+5931A=
NM_001199973.2:c.300+2296A= (RPL36A-HNRNPH2) NP_001186902.2:n.300+2296A=
NM_001199974.2:c.177+5931A= (RPL36A-HNRNPH2) NP_001186903.2:n.177+5931A=