Canonical Allele Identifier: CA021577
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10766
ClinVar RCV Id: RCV000011513
dbSNP Id: rs104894848
MyVariant Identifiers: chrX:g.100662698C>G (hg19) chrX:g.101407710C>G (hg38)
PubMed: PMID:9554750 PMID:12786754
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101407710C>G , CM000685.2:g.101407710C>G GRCh38
NC_000023.10:g.100662698C>G , CM000685.1:g.100662698C>G GRCh37
NC_000023.9:g.100549354C>G NCBI36
NG_007119.1:g.5254G>C , LRG_672:g.5254G>C
NG_016327.1:g.4508C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.194G>C (GLA) ENSP00000501124.2:p.Ser65Thr
ENST00000674127.2:c.194G>C (GLA) ENSP00000501044.2:p.Ser65Thr
ENST00000710365.1:c.194G>C (GLA) ENSP00000518234.1:p.Ser65Thr
ENST00000218516.4:c.194G>C (GLA) MANE Select ENSP00000218516.4:p.Ser65Thr
ENST00000466414.2:n.113G>C (GLA)
ENST00000468823.2:n.255G>C (GLA)
ENST00000479445.2:n.192G>C (GLA)
ENST00000480513.6:c.194G>C (GLA) ENSP00000497055.1:p.Ser65Thr
ENST00000486121.6:c.124G>C (GLA)
ENST00000649178.1:c.194G>C (GLA) ENSP00000498186.1:p.Ser65Thr
ENST00000674127.1:c.122G>C (GLA) ENSP00000501044.1:p.Ser41Thr
ENST00000674142.1:n.281G>C (GLA)
ENST00000674634.2:c.194G>C (GLA) ENSP00000502629.2:p.Ser65Thr
ENST00000675592.1:c.194G>C (GLA) ENSP00000502239.1:p.Ser65Thr
ENST00000675799.1:c.194G>C (GLA) ENSP00000502661.1:p.Ser65Thr
ENST00000675968.1:n.255G>C (GLA)
ENST00000676156.1:c.194G>C (GLA) ENSP00000501730.1:p.Ser65Thr
ENST00000676372.1:c.194G>C (GLA) ENSP00000502805.1:p.Ser65Thr
ENST00000218516.3:c.194G>C (GLA) ENSP00000218516.3:p.Ser65Thr
ENST00000409170.3:c.301-4226C>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.301-4226C>G
ENST00000409338.5:c.178-4226C>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.178-4226C>G
ENST00000479445.1:n.178G>C (GLA)
ENST00000480513.5:n.124G>C (GLA)
ENST00000486121.5:n.124G>C (GLA)
ENST00000493905.6:c.194G>C (GLA) ENSP00000476935.1:p.Ser65Thr
NM_000169.2:c.194G>C , LRG_672t1:c.194G>C (GLA) NP_000160.1:p.Ser65Thr
NM_001199973.1:c.409-4226C>G (RPL36A-HNRNPH2) NP_001186902.1:n.409-4226C>G
NM_001199974.1:c.286-4226C>G (RPL36A-HNRNPH2) NP_001186903.1:n.286-4226C>G
XR_938397.1:n.222G>C (GLA)
XR_938397.2:n.243G>C (GLA)
NM_001199973.2:c.301-4226C>G (RPL36A-HNRNPH2) NP_001186902.2:n.301-4226C>G
NM_001199974.2:c.178-4226C>G (RPL36A-HNRNPH2) NP_001186903.2:n.178-4226C>G
NM_000169.3:c.194G>C (GLA) MANE Select NP_000160.1:p.Ser65Thr
NR_164783.1:n.216G>C (GLA)
Search 100 bp 5'
Search 100 bp 3'