Canonical Allele Identifier: CA413921275
Community Standard Title: NM_000169.3(GLA):c.997C>T (p.Gln333Ter)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398372G>A , CM000685.2:g.101398372G>A GRCh38
NC_000023.10:g.100653360G>A , CM000685.1:g.100653360G>A GRCh37
NC_000023.9:g.100540016G>A NCBI36
NG_007119.1:g.14592C>T , LRG_672:g.14592C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.997C>T (GLA) MANE Select NP_000160.1:p.Gln333Ter
ENST00000218516.4:c.997C>T (GLA) MANE Select ENSP00000218516.4:p.Gln333Ter
NM_000169.2:c.997C>T , LRG_672t1:c.997C>T (GLA) NP_000160.1:p.Gln333Ter
NM_001199973.1:c.408+2915G>A (RPL36A-HNRNPH2) NP_001186902.1:n.408+2915G>A
NM_001199973.2:c.300+2915G>A (RPL36A-HNRNPH2) NP_001186902.2:n.300+2915G>A
NM_001199974.1:c.285+6550G>A (RPL36A-HNRNPH2) NP_001186903.1:n.285+6550G>A
NM_001199974.2:c.177+6550G>A (RPL36A-HNRNPH2) NP_001186903.2:n.177+6550G>A
NR_164783.1:n.1076C>T (GLA)
ENST00000218516.3:c.997C>T (GLA) ENSP00000218516.3:p.Gln333Ter
ENST00000409170.3:c.300+2915G>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2915G>A
ENST00000409338.5:c.177+6550G>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6550G>A
ENST00000466414.1:n.323C>T (GLA)
ENST00000466414.2:n.1133C>T (GLA)
ENST00000468823.2:n.2149C>T (GLA)
ENST00000479445.2:n.1611C>T (GLA)
ENST00000480513.6:c.*305C>T (GLA) ENSP00000497055.1:n.*305C>T
ENST00000486121.6:c.1042C>T (GLA)
ENST00000486121.7:c.*443C>T (GLA) ENSP00000501124.2:n.*443C>T
ENST00000493905.6:c.*385C>T (GLA) ENSP00000476935.1:n.*385C>T
ENST00000649178.1:c.1120C>T (GLA) ENSP00000498186.1:p.Gln374Ter
ENST00000674127.1:c.1097C>T (GLA) ENSP00000501044.1:n.1097C>T
ENST00000674127.2:c.*500C>T (GLA) ENSP00000501044.2:n.*500C>T
ENST00000674142.1:n.1301C>T (GLA)
ENST00000674634.2:c.997C>T (GLA) ENSP00000502629.2:p.Gln333Ter
ENST00000675592.1:c.802-273C>T (GLA) ENSP00000502239.1:n.802-273C>T
ENST00000675799.1:c.*522C>T (GLA) ENSP00000502661.1:n.*522C>T
ENST00000675968.1:n.3868C>T (GLA)
ENST00000676156.1:c.961C>T (GLA) ENSP00000501730.1:p.Gln321Ter
ENST00000676372.1:c.1063C>T (GLA) ENSP00000502805.1:n.1063C>T
ENST00000710365.1:c.1072C>T (GLA) ENSP00000518234.1:p.Gln358Ter
XR_938397.1:n.1082C>T (GLA)
XR_938397.2:n.1103C>T (GLA)