Canonical Allele Identifier: CA022141
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10717
dbSNP Id: rs104894830

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398483T>C , CM000685.2:g.101398483T>C GRCh38
NC_000023.10:g.100653471T>C , CM000685.1:g.100653471T>C GRCh37
NC_000023.9:g.100540127T>C NCBI36
NG_007119.1:g.14481A>G , LRG_672:g.14481A>G

Transcript Alleles

HGVS Amino-acid change
NM_000169.2:c.886A>G , LRG_672t1:c.886A>G (GLA) NP_000160.1:p.Met296Val
NM_001199973.1:c.408+3026T>C (RPL36A-HNRNPH2) VV NP_001186902.1:p.=
NM_001199974.1:c.285+6661T>C (RPL36A-HNRNPH2) VV NP_001186903.1:p.=
XR_938397.1:n.971A>G (GLA)
XR_938397.2:n.992A>G (GLA)
NM_001199973.2:c.300+3026T>C (RPL36A-HNRNPH2) VV NP_001186902.2:p.=
NM_001199974.2:c.177+6661T>C (RPL36A-HNRNPH2) VV NP_001186903.2:p.=
ENST00000218516.3:c.886A>G ENSP00000218516.3:p.Met296Val
ENST00000409170.3:c.300+3026T>C ENSP00000386655.4:p.=
ENST00000409338.5:c.177+6661T>C ENSP00000386974.2:p.=
ENST00000466414.1:n.212A>G
ENST00000493905.6:c.*274A>G ENSP00000476935.1:p.=