Canonical Allele Identifier: CA089014
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 217394
dbSNP Id: rs104894840

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398906C>G , CM000685.2:g.101398906C>G GRCh38
NC_000023.9:g.100540550C>G NCBI36
NC_000023.10:g.100653894C>G , CM000685.1:g.100653894C>G GRCh37
NG_007119.1:g.14058G>C , LRG_672:g.14058G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218516.3:c.680G>C ENSP00000218516.3:p.Arg227Pro
ENST00000409170.3:c.300+3449C>G ENSP00000386655.4:p.=
ENST00000409338.5:c.177+7084C>G ENSP00000386974.2:p.=
ENST00000468823.1:n.229G>C
ENST00000480513.5:n.518G>C
ENST00000493905.6:c.*68G>C ENSP00000476935.1:p.=
NM_000169.2:c.680G>C , LRG_672t1:c.680G>C (GLA) NP_000160.1:p.Arg227Pro
NM_001199973.1:c.408+3449C>G (RPL36A-HNRNPH2) NP_001186902.1:p.=
NM_001199974.1:c.285+7084C>G (RPL36A-HNRNPH2) NP_001186903.1:p.=
XR_938397.1:n.765G>C (GLA)