Canonical Allele Identifier: CA413919083
Community Standard Title: NM_000169.3(GLA):c.1235C>T (p.Thr412Ile)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397864G>A , CM000685.2:g.101397864G>A GRCh38
NC_000023.10:g.100652852G>A , CM000685.1:g.100652852G>A GRCh37
NC_000023.9:g.100539508G>A NCBI36
NG_007119.1:g.15100C>T , LRG_672:g.15100C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1235C>T (GLA) MANE Select NP_000160.1:p.Thr412Ile
ENST00000218516.4:c.1235C>T (GLA) MANE Select ENSP00000218516.4:p.Thr412Ile
NM_000169.2:c.1235C>T , LRG_672t1:c.1235C>T (GLA) NP_000160.1:p.Thr412Ile
NM_001199973.1:c.408+2407G>A (RPL36A-HNRNPH2) NP_001186902.1:n.408+2407G>A
NM_001199973.2:c.300+2407G>A (RPL36A-HNRNPH2) NP_001186902.2:n.300+2407G>A
NM_001199974.1:c.285+6042G>A (RPL36A-HNRNPH2) NP_001186903.1:n.285+6042G>A
NM_001199974.2:c.177+6042G>A (RPL36A-HNRNPH2) NP_001186903.2:n.177+6042G>A
NR_164783.1:n.1314C>T (GLA)
ENST00000218516.3:c.1235C>T (GLA) ENSP00000218516.3:p.Thr412Ile
ENST00000409170.3:c.300+2407G>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2407G>A
ENST00000409338.5:c.177+6042G>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6042G>A
ENST00000466414.1:n.561C>T (GLA)
ENST00000466414.2:n.1371C>T (GLA)
ENST00000468823.2:n.2657C>T (GLA)
ENST00000479445.2:n.1849C>T (GLA)
ENST00000493905.6:c.*623C>T (GLA) ENSP00000476935.1:n.*623C>T
ENST00000649178.1:c.1358C>T (GLA) ENSP00000498186.1:p.Thr453Ile
ENST00000674127.1:c.1335C>T (GLA) ENSP00000501044.1:n.1335C>T
ENST00000674127.2:c.*738C>T (GLA) ENSP00000501044.2:n.*738C>T
ENST00000674142.1:n.1421+118C>T (GLA)
ENST00000675592.1:c.1037C>T (GLA) ENSP00000502239.1:p.Thr346Ile
ENST00000675799.1:c.*760C>T (GLA) ENSP00000502661.1:n.*760C>T
ENST00000675968.1:n.4106C>T (GLA)
ENST00000676156.1:c.1199C>T (GLA) ENSP00000501730.1:p.Thr400Ile
ENST00000676372.1:c.1301C>T (GLA) ENSP00000502805.1:n.1301C>T
ENST00000710365.1:c.1310C>T (GLA) ENSP00000518234.1:p.Thr437Ile
XR_938397.1:n.1320C>T (GLA)
XR_938397.2:n.1341C>T (GLA)