Canonical Allele Identifier: CA413920265
Community Standard Title: NM_000169.3(GLA):c.1144T>A (p.Cys382Ser)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397955A>T , CM000685.2:g.101397955A>T GRCh38
NC_000023.10:g.100652943A>T , CM000685.1:g.100652943A>T GRCh37
NC_000023.9:g.100539599A>T NCBI36
NG_007119.1:g.15009T>A , LRG_672:g.15009T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1144T>A (GLA) MANE Select NP_000160.1:p.Cys382Ser
ENST00000218516.4:c.1144T>A (GLA) MANE Select ENSP00000218516.4:p.Cys382Ser
NM_000169.2:c.1144T>A , LRG_672t1:c.1144T>A (GLA) NP_000160.1:p.Cys382Ser
NM_001199973.1:c.408+2498A>T (RPL36A-HNRNPH2) NP_001186902.1:n.408+2498A>T
NM_001199973.2:c.300+2498A>T (RPL36A-HNRNPH2) NP_001186902.2:n.300+2498A>T
NM_001199974.1:c.285+6133A>T (RPL36A-HNRNPH2) NP_001186903.1:n.285+6133A>T
NM_001199974.2:c.177+6133A>T (RPL36A-HNRNPH2) NP_001186903.2:n.177+6133A>T
NR_164783.1:n.1223T>A (GLA)
ENST00000218516.3:c.1144T>A (GLA) ENSP00000218516.3:p.Cys382Ser
ENST00000409170.3:c.300+2498A>T (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2498A>T
ENST00000409338.5:c.177+6133A>T (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6133A>T
ENST00000466414.1:n.470T>A (GLA)
ENST00000466414.2:n.1280T>A (GLA)
ENST00000468823.2:n.2566T>A (GLA)
ENST00000479445.2:n.1758T>A (GLA)
ENST00000480513.6:c.*452T>A (GLA) ENSP00000497055.1:n.*452T>A
ENST00000486121.6:c.1189T>A (GLA)
ENST00000486121.7:c.*590T>A (GLA) ENSP00000501124.2:n.*590T>A
ENST00000493905.6:c.*532T>A (GLA) ENSP00000476935.1:n.*532T>A
ENST00000649178.1:c.1267T>A (GLA) ENSP00000498186.1:p.Cys423Ser
ENST00000674127.1:c.1244T>A (GLA) ENSP00000501044.1:n.1244T>A
ENST00000674127.2:c.*647T>A (GLA) ENSP00000501044.2:n.*647T>A
ENST00000674142.1:n.1421+27T>A (GLA)
ENST00000675592.1:c.946T>A (GLA) ENSP00000502239.1:p.Cys316Ser
ENST00000675799.1:c.*669T>A (GLA) ENSP00000502661.1:n.*669T>A
ENST00000675968.1:n.4015T>A (GLA)
ENST00000676156.1:c.1108T>A (GLA) ENSP00000501730.1:p.Cys370Ser
ENST00000676372.1:c.1210T>A (GLA) ENSP00000502805.1:n.1210T>A
ENST00000710365.1:c.1219T>A (GLA) ENSP00000518234.1:p.Cys407Ser
XR_938397.1:n.1229T>A (GLA)
XR_938397.2:n.1250T>A (GLA)