Canonical Allele Identifier: CA413924759
Community Standard Title: NM_000169.3(GLA):c.695T>C (p.Ile232Thr)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398891A>G , CM000685.2:g.101398891A>G GRCh38
NC_000023.10:g.100653879A>G , CM000685.1:g.100653879A>G GRCh37
NC_000023.9:g.100540535A>G NCBI36
NG_007119.1:g.14073T>C , LRG_672:g.14073T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.695T>C (GLA) MANE Select NP_000160.1:p.Ile232Thr
ENST00000218516.4:c.695T>C (GLA) MANE Select ENSP00000218516.4:p.Ile232Thr
NM_000169.2:c.695T>C , LRG_672t1:c.695T>C (GLA) NP_000160.1:p.Ile232Thr
NM_001199973.1:c.408+3434A>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+3434A>G
NM_001199973.2:c.300+3434A>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+3434A>G
NM_001199974.1:c.285+7069A>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+7069A>G
NM_001199974.2:c.177+7069A>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+7069A>G
NR_164783.1:n.774T>C (GLA)
ENST00000218516.3:c.695T>C (GLA) ENSP00000218516.3:p.Ile232Thr
ENST00000409170.3:c.300+3434A>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3434A>G
ENST00000409338.5:c.177+7069A>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+7069A>G
ENST00000466414.2:n.614T>C (GLA)
ENST00000468823.1:n.244T>C (GLA)
ENST00000468823.2:n.1630T>C (GLA)
ENST00000479445.2:n.1092T>C (GLA)
ENST00000480513.5:n.533T>C (GLA)
ENST00000480513.6:c.*3T>C (GLA) ENSP00000497055.1:n.*3T>C
ENST00000486121.6:c.740T>C (GLA)
ENST00000486121.7:c.*141T>C (GLA) ENSP00000501124.2:n.*141T>C
ENST00000493905.6:c.*83T>C (GLA) ENSP00000476935.1:n.*83T>C
ENST00000649178.1:c.818T>C (GLA) ENSP00000498186.1:p.Ile273Thr
ENST00000674127.1:c.795T>C (GLA) ENSP00000501044.1:n.795T>C
ENST00000674127.2:c.*198T>C (GLA) ENSP00000501044.2:n.*198T>C
ENST00000674142.1:n.782T>C (GLA)
ENST00000674634.2:c.695T>C (GLA) ENSP00000502629.2:p.Ile232Thr
ENST00000675592.1:c.695T>C (GLA) ENSP00000502239.1:p.Ile232Thr
ENST00000675799.1:c.*3T>C (GLA) ENSP00000502661.1:n.*3T>C
ENST00000675968.1:n.3349T>C (GLA)
ENST00000676156.1:c.659T>C (GLA) ENSP00000501730.1:p.Ile220Thr
ENST00000676372.1:c.695T>C (GLA) ENSP00000502805.1:p.Ile232Thr
ENST00000710365.1:c.770T>C (GLA) ENSP00000518234.1:p.Ile257Thr
XR_938397.1:n.780T>C (GLA)
XR_938397.2:n.801T>C (GLA)