Canonical Allele Identifier: CA021469
Community Standard Title: NM_000169.3(GLA):c.1229C>A (p.Thr410Lys)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397870G>T , CM000685.2:g.101397870G>T GRCh38
NC_000023.10:g.100652858G>T , CM000685.1:g.100652858G>T GRCh37
NC_000023.9:g.100539514G>T NCBI36
NG_007119.1:g.15094C>A , LRG_672:g.15094C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1229C>A (GLA) MANE Select NP_000160.1:p.Thr410Lys
ENST00000218516.4:c.1229C>A (GLA) MANE Select ENSP00000218516.4:p.Thr410Lys
NM_000169.2:c.1229C>A , LRG_672t1:c.1229C>A (GLA) NP_000160.1:p.Thr410Lys
NM_001199973.1:c.408+2413G>T (RPL36A-HNRNPH2) NP_001186902.1:n.408+2413G>T
NM_001199973.2:c.300+2413G>T (RPL36A-HNRNPH2) NP_001186902.2:n.300+2413G>T
NM_001199974.1:c.285+6048G>T (RPL36A-HNRNPH2) NP_001186903.1:n.285+6048G>T
NM_001199974.2:c.177+6048G>T (RPL36A-HNRNPH2) NP_001186903.2:n.177+6048G>T
NR_164783.1:n.1308C>A (GLA)
ENST00000218516.3:c.1229C>A (GLA) ENSP00000218516.3:p.Thr410Lys
ENST00000409170.3:c.300+2413G>T (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2413G>T
ENST00000409338.5:c.177+6048G>T (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6048G>T
ENST00000466414.1:n.555C>A (GLA)
ENST00000466414.2:n.1365C>A (GLA)
ENST00000468823.2:n.2651C>A (GLA)
ENST00000479445.2:n.1843C>A (GLA)
ENST00000493905.6:c.*617C>A (GLA) ENSP00000476935.1:n.*617C>A
ENST00000649178.1:c.1352C>A (GLA) ENSP00000498186.1:p.Thr451Lys
ENST00000674127.1:c.1329C>A (GLA) ENSP00000501044.1:n.1329C>A
ENST00000674127.2:c.*732C>A (GLA) ENSP00000501044.2:n.*732C>A
ENST00000674142.1:n.1421+112C>A (GLA)
ENST00000675592.1:c.1031C>A (GLA) ENSP00000502239.1:p.Thr344Lys
ENST00000675799.1:c.*754C>A (GLA) ENSP00000502661.1:n.*754C>A
ENST00000675968.1:n.4100C>A (GLA)
ENST00000676156.1:c.1193C>A (GLA) ENSP00000501730.1:p.Thr398Lys
ENST00000676372.1:c.1295C>A (GLA) ENSP00000502805.1:n.1295C>A
ENST00000710365.1:c.1304C>A (GLA) ENSP00000518234.1:p.Thr435Lys
XR_938397.1:n.1314C>A (GLA)
XR_938397.2:n.1335C>A (GLA)