Canonical Allele Identifier: CA021558
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10725
ClinVar RCV Id: RCV000011472
dbSNP Id: rs104894836

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101407738A>C , CM000685.2:g.101407738A>C GRCh38
NC_000023.10:g.100662726A>C , CM000685.1:g.100662726A>C GRCh37
NC_000023.9:g.100549382A>C NCBI36
NG_007119.1:g.5226T>G , LRG_672:g.5226T>G
NG_016327.1:g.4536A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.166T>G (GLA) ENSP00000501124.2:p.Cys56Gly
ENST00000674127.2:c.166T>G (GLA) ENSP00000501044.2:p.Cys56Gly
ENST00000710365.1:c.166T>G (GLA) ENSP00000518234.1:p.Cys56Gly
ENST00000218516.4:c.166T>G (GLA) MANE Select ENSP00000218516.4:p.Cys56Gly
ENST00000466414.2:n.85T>G (GLA)
ENST00000468823.2:n.227T>G (GLA)
ENST00000479445.2:n.164T>G (GLA)
ENST00000480513.6:c.166T>G (GLA) ENSP00000497055.1:p.Cys56Gly
ENST00000486121.6:c.96T>G (GLA)
ENST00000649178.1:c.166T>G (GLA) ENSP00000498186.1:p.Cys56Gly
ENST00000674127.1:c.94T>G (GLA) ENSP00000501044.1:p.Cys32Gly
ENST00000674142.1:n.253T>G (GLA)
ENST00000674634.2:c.166T>G (GLA) ENSP00000502629.2:p.Cys56Gly
ENST00000675592.1:c.166T>G (GLA) ENSP00000502239.1:p.Cys56Gly
ENST00000675799.1:c.166T>G (GLA) ENSP00000502661.1:p.Cys56Gly
ENST00000675968.1:n.227T>G (GLA)
ENST00000676156.1:c.166T>G (GLA) ENSP00000501730.1:p.Cys56Gly
ENST00000676372.1:c.166T>G (GLA) ENSP00000502805.1:p.Cys56Gly
ENST00000218516.3:c.166T>G (GLA) ENSP00000218516.3:p.Cys56Gly
ENST00000409170.3:c.301-4198A>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.301-4198A>C
ENST00000409338.5:c.178-4198A>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.178-4198A>C
ENST00000479445.1:n.150T>G (GLA)
ENST00000480513.5:n.96T>G (GLA)
ENST00000486121.5:n.96T>G (GLA)
ENST00000493905.6:c.166T>G (GLA) ENSP00000476935.1:p.Cys56Gly
NM_000169.2:c.166T>G , LRG_672t1:c.166T>G (GLA) NP_000160.1:p.Cys56Gly
NM_001199973.1:c.409-4198A>C (RPL36A-HNRNPH2) NP_001186902.1:n.409-4198A>C
NM_001199974.1:c.286-4198A>C (RPL36A-HNRNPH2) NP_001186903.1:n.286-4198A>C
XR_938397.1:n.194T>G (GLA)
XR_938397.2:n.215T>G (GLA)
NM_001199973.2:c.301-4198A>C (RPL36A-HNRNPH2) NP_001186902.2:n.301-4198A>C
NM_001199974.2:c.178-4198A>C (RPL36A-HNRNPH2) NP_001186903.2:n.178-4198A>C
NM_000169.3:c.166T>G (GLA) MANE Select NP_000160.1:p.Cys56Gly
NR_164783.1:n.188T>G (GLA)