Canonical Allele Identifier: CA16621160
Community Standard Title: NM_000169.3(GLA):c.1241T>C (p.Leu414Ser)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397858A>G , CM000685.2:g.101397858A>G GRCh38
NC_000023.10:g.100652846A>G , CM000685.1:g.100652846A>G GRCh37
NC_000023.9:g.100539502A>G NCBI36
NG_007119.1:g.15106T>C , LRG_672:g.15106T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1241T>C (GLA) MANE Select NP_000160.1:p.Leu414Ser
ENST00000218516.4:c.1241T>C (GLA) MANE Select ENSP00000218516.4:p.Leu414Ser
NM_000169.2:c.1241T>C , LRG_672t1:c.1241T>C (GLA) NP_000160.1:p.Leu414Ser
NM_001199973.1:c.408+2401A>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+2401A>G
NM_001199973.2:c.300+2401A>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+2401A>G
NM_001199974.1:c.285+6036A>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6036A>G
NM_001199974.2:c.177+6036A>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6036A>G
NR_164783.1:n.1320T>C (GLA)
ENST00000218516.3:c.1241T>C (GLA) ENSP00000218516.3:p.Leu414Ser
ENST00000409170.3:c.300+2401A>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2401A>G
ENST00000409338.5:c.177+6036A>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6036A>G
ENST00000466414.1:n.567T>C (GLA)
ENST00000466414.2:n.1377T>C (GLA)
ENST00000468823.2:n.2663T>C (GLA)
ENST00000479445.2:n.1855T>C (GLA)
ENST00000493905.6:c.*629T>C (GLA) ENSP00000476935.1:n.*629T>C
ENST00000649178.1:c.1364T>C (GLA) ENSP00000498186.1:p.Leu455Ser
ENST00000674127.1:c.1341T>C (GLA) ENSP00000501044.1:n.1341T>C
ENST00000674127.2:c.*744T>C (GLA) ENSP00000501044.2:n.*744T>C
ENST00000674142.1:n.1421+124T>C (GLA)
ENST00000675592.1:c.1043T>C (GLA) ENSP00000502239.1:p.Leu348Ser
ENST00000675968.1:n.4112T>C (GLA)
ENST00000676156.1:c.1205T>C (GLA) ENSP00000501730.1:p.Leu402Ser
ENST00000676372.1:c.1307T>C (GLA) ENSP00000502805.1:n.1307T>C
ENST00000710365.1:c.1316T>C (GLA) ENSP00000518234.1:p.Leu439Ser
XR_938397.1:n.1326T>C (GLA)
XR_938397.2:n.1347T>C (GLA)