Canonical Allele Identifier: CA022146
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10763
ClinVar RCV Id: RCV000011510
dbSNP Id: rs104894846

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398481C>T , CM000685.2:g.101398481C>T GRCh38
NC_000023.10:g.100653469C>T , CM000685.1:g.100653469C>T GRCh37
NC_000023.9:g.100540125C>T NCBI36
NG_007119.1:g.14483G>A , LRG_672:g.14483G>A

Transcript Alleles

HGVS Amino-acid change
NM_000169.2:c.888G>A , LRG_672t1:c.888G>A (GLA) NP_000160.1:p.Met296Ile
NM_001199973.1:c.408+3024C>T (RPL36A-HNRNPH2) VV NP_001186902.1:p.=
NM_001199974.1:c.285+6659C>T (RPL36A-HNRNPH2) VV NP_001186903.1:p.=
XR_938397.1:n.973G>A (GLA)
XR_938397.2:n.994G>A (GLA)
NM_001199973.2:c.300+3024C>T (RPL36A-HNRNPH2) VV NP_001186902.2:p.=
NM_001199974.2:c.177+6659C>T (RPL36A-HNRNPH2) VV NP_001186903.2:p.=
ENST00000218516.3:c.888G>A ENSP00000218516.3:p.Met296Ile
ENST00000409170.3:c.300+3024C>T ENSP00000386655.4:p.=
ENST00000409338.5:c.177+6659C>T ENSP00000386974.2:p.=
ENST00000466414.1:n.214G>A
ENST00000493905.6:c.*276G>A ENSP00000476935.1:p.=