Canonical Allele Identifier: CA413920826
Community Standard Title: NM_000169.3(GLA):c.1076T>C (p.Ile359Thr)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398023A>G , CM000685.2:g.101398023A>G GRCh38
NC_000023.10:g.100653011A>G , CM000685.1:g.100653011A>G GRCh37
NC_000023.9:g.100539667A>G NCBI36
NG_007119.1:g.14941T>C , LRG_672:g.14941T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1076T>C (GLA) MANE Select NP_000160.1:p.Ile359Thr
ENST00000218516.4:c.1076T>C (GLA) MANE Select ENSP00000218516.4:p.Ile359Thr
NM_000169.2:c.1076T>C , LRG_672t1:c.1076T>C (GLA) NP_000160.1:p.Ile359Thr
NM_001199973.1:c.408+2566A>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+2566A>G
NM_001199973.2:c.300+2566A>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+2566A>G
NM_001199974.1:c.285+6201A>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6201A>G
NM_001199974.2:c.177+6201A>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6201A>G
NR_164783.1:n.1155T>C (GLA)
ENST00000218516.3:c.1076T>C (GLA) ENSP00000218516.3:p.Ile359Thr
ENST00000409170.3:c.300+2566A>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2566A>G
ENST00000409338.5:c.177+6201A>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6201A>G
ENST00000466414.1:n.402T>C (GLA)
ENST00000466414.2:n.1212T>C (GLA)
ENST00000468823.2:n.2498T>C (GLA)
ENST00000479445.2:n.1690T>C (GLA)
ENST00000480513.6:c.*384T>C (GLA) ENSP00000497055.1:n.*384T>C
ENST00000486121.6:c.1121T>C (GLA)
ENST00000486121.7:c.*522T>C (GLA) ENSP00000501124.2:n.*522T>C
ENST00000493905.6:c.*464T>C (GLA) ENSP00000476935.1:n.*464T>C
ENST00000649178.1:c.1199T>C (GLA) ENSP00000498186.1:p.Ile400Thr
ENST00000674127.1:c.1176T>C (GLA) ENSP00000501044.1:n.1176T>C
ENST00000674127.2:c.*579T>C (GLA) ENSP00000501044.2:n.*579T>C
ENST00000674142.1:n.1380T>C (GLA)
ENST00000675592.1:c.878T>C (GLA) ENSP00000502239.1:p.Ile293Thr
ENST00000675799.1:c.*601T>C (GLA) ENSP00000502661.1:n.*601T>C
ENST00000675968.1:n.3947T>C (GLA)
ENST00000676156.1:c.1040T>C (GLA) ENSP00000501730.1:p.Ile347Thr
ENST00000676372.1:c.1142T>C (GLA) ENSP00000502805.1:n.1142T>C
ENST00000710365.1:c.1151T>C (GLA) ENSP00000518234.1:p.Ile384Thr
XR_938397.1:n.1161T>C (GLA)
XR_938397.2:n.1182T>C (GLA)