Canonical Allele Identifier: CA413922418
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*334G>C (GLA) ENSP00000501124.2:n.*334G>C
ENST00000674127.2:c.*391G>C (GLA) ENSP00000501044.2:n.*391G>C
ENST00000710365.1:c.963G>C (GLA) ENSP00000518234.1:p.Met321Ile
ENST00000218516.4:c.888G>C (GLA) MANE Select ENSP00000218516.4:p.Met296Ile
ENST00000466414.2:n.1024G>C (GLA)
ENST00000468823.2:n.2040G>C (GLA)
ENST00000479445.2:n.1502G>C (GLA)
ENST00000480513.6:c.*196G>C (GLA) ENSP00000497055.1:n.*196G>C
ENST00000486121.6:c.933G>C (GLA)
ENST00000649178.1:c.1011G>C (GLA) ENSP00000498186.1:p.Met337Ile
ENST00000674127.1:c.988G>C (GLA) ENSP00000501044.1:n.988G>C
ENST00000674142.1:n.1192G>C (GLA)
ENST00000674634.2:c.888G>C (GLA) ENSP00000502629.2:p.Met296Ile
ENST00000675592.1:c.801+304G>C (GLA) ENSP00000502239.1:n.801+304G>C
ENST00000675799.1:c.*413G>C (GLA) ENSP00000502661.1:n.*413G>C
ENST00000675968.1:n.3759G>C (GLA)
ENST00000676156.1:c.852G>C (GLA) ENSP00000501730.1:p.Met284Ile
ENST00000676372.1:c.954G>C (GLA) ENSP00000502805.1:n.954G>C
ENST00000218516.3:c.888G>C (GLA) ENSP00000218516.3:p.Met296Ile
ENST00000409170.3:c.300+3024C>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3024C>G
ENST00000409338.5:c.177+6659C>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6659C>G
ENST00000466414.1:n.214G>C (GLA)
ENST00000493905.6:c.*276G>C (GLA) ENSP00000476935.1:n.*276G>C
NM_000169.2:c.888G>C , LRG_672t1:c.888G>C (GLA) NP_000160.1:p.Met296Ile
NM_001199973.1:c.408+3024C>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+3024C>G
NM_001199974.1:c.285+6659C>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6659C>G
XR_938397.1:n.973G>C (GLA)
XR_938397.2:n.994G>C (GLA)
NM_001199973.2:c.300+3024C>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+3024C>G
NM_001199974.2:c.177+6659C>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6659C>G
NM_000169.3:c.888G>C (GLA) MANE Select NP_000160.1:p.Met296Ile
NR_164783.1:n.967G>C (GLA)