Canonical Allele Identifier: CA413924718
Community Standard Title: NM_000169.3(GLA):c.700G>T (p.Asp234Tyr)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398886C>A , CM000685.2:g.101398886C>A GRCh38
NC_000023.10:g.100653874C>A , CM000685.1:g.100653874C>A GRCh37
NC_000023.9:g.100540530C>A NCBI36
NG_007119.1:g.14078G>T , LRG_672:g.14078G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.700G>T (GLA) MANE Select NP_000160.1:p.Asp234Tyr
ENST00000218516.4:c.700G>T (GLA) MANE Select ENSP00000218516.4:p.Asp234Tyr
NM_000169.2:c.700G>T , LRG_672t1:c.700G>T (GLA) NP_000160.1:p.Asp234Tyr
NM_001199973.1:c.408+3429C>A (RPL36A-HNRNPH2) NP_001186902.1:n.408+3429C>A
NM_001199973.2:c.300+3429C>A (RPL36A-HNRNPH2) NP_001186902.2:n.300+3429C>A
NM_001199974.1:c.285+7064C>A (RPL36A-HNRNPH2) NP_001186903.1:n.285+7064C>A
NM_001199974.2:c.177+7064C>A (RPL36A-HNRNPH2) NP_001186903.2:n.177+7064C>A
NR_164783.1:n.779G>T (GLA)
ENST00000218516.3:c.700G>T (GLA) ENSP00000218516.3:p.Asp234Tyr
ENST00000409170.3:c.300+3429C>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3429C>A
ENST00000409338.5:c.177+7064C>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+7064C>A
ENST00000466414.2:n.619G>T (GLA)
ENST00000468823.1:n.249G>T (GLA)
ENST00000468823.2:n.1635G>T (GLA)
ENST00000479445.2:n.1097G>T (GLA)
ENST00000480513.5:n.538G>T (GLA)
ENST00000480513.6:c.*8G>T (GLA) ENSP00000497055.1:n.*8G>T
ENST00000486121.6:c.745G>T (GLA)
ENST00000486121.7:c.*146G>T (GLA) ENSP00000501124.2:n.*146G>T
ENST00000493905.6:c.*88G>T (GLA) ENSP00000476935.1:n.*88G>T
ENST00000649178.1:c.823G>T (GLA) ENSP00000498186.1:p.Asp275Tyr
ENST00000674127.1:c.800G>T (GLA) ENSP00000501044.1:n.800G>T
ENST00000674127.2:c.*203G>T (GLA) ENSP00000501044.2:n.*203G>T
ENST00000674142.1:n.787G>T (GLA)
ENST00000674634.2:c.700G>T (GLA) ENSP00000502629.2:p.Asp234Tyr
ENST00000675592.1:c.700G>T (GLA) ENSP00000502239.1:p.Asp234Tyr
ENST00000675799.1:c.*8G>T (GLA) ENSP00000502661.1:n.*8G>T
ENST00000675968.1:n.3354G>T (GLA)
ENST00000676156.1:c.664G>T (GLA) ENSP00000501730.1:p.Asp222Tyr
ENST00000676372.1:c.700G>T (GLA) ENSP00000502805.1:p.Asp234Tyr
ENST00000710365.1:c.775G>T (GLA) ENSP00000518234.1:p.Asp259Tyr
XR_938397.1:n.785G>T (GLA)
XR_938397.2:n.806G>T (GLA)