Canonical Allele Identifier: CA413922275
Community Standard Title: NM_000169.3(GLA):c.897C>A (p.Asp299Glu)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398472G>T , CM000685.2:g.101398472G>T GRCh38
NC_000023.10:g.100653460G>T , CM000685.1:g.100653460G>T GRCh37
NC_000023.9:g.100540116G>T NCBI36
NG_007119.1:g.14492C>A , LRG_672:g.14492C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.897C>A (GLA) MANE Select NP_000160.1:p.Asp299Glu
ENST00000218516.4:c.897C>A (GLA) MANE Select ENSP00000218516.4:p.Asp299Glu
NM_000169.2:c.897C>A , LRG_672t1:c.897C>A (GLA) NP_000160.1:p.Asp299Glu
NM_001199973.1:c.408+3015G>T (RPL36A-HNRNPH2) NP_001186902.1:n.408+3015G>T
NM_001199973.2:c.300+3015G>T (RPL36A-HNRNPH2) NP_001186902.2:n.300+3015G>T
NM_001199974.1:c.285+6650G>T (RPL36A-HNRNPH2) NP_001186903.1:n.285+6650G>T
NM_001199974.2:c.177+6650G>T (RPL36A-HNRNPH2) NP_001186903.2:n.177+6650G>T
NR_164783.1:n.976C>A (GLA)
ENST00000218516.3:c.897C>A (GLA) ENSP00000218516.3:p.Asp299Glu
ENST00000409170.3:c.300+3015G>T (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3015G>T
ENST00000409338.5:c.177+6650G>T (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6650G>T
ENST00000466414.1:n.223C>A (GLA)
ENST00000466414.2:n.1033C>A (GLA)
ENST00000468823.2:n.2049C>A (GLA)
ENST00000479445.2:n.1511C>A (GLA)
ENST00000480513.6:c.*205C>A (GLA) ENSP00000497055.1:n.*205C>A
ENST00000486121.6:c.942C>A (GLA)
ENST00000486121.7:c.*343C>A (GLA) ENSP00000501124.2:n.*343C>A
ENST00000493905.6:c.*285C>A (GLA) ENSP00000476935.1:n.*285C>A
ENST00000649178.1:c.1020C>A (GLA) ENSP00000498186.1:p.Asp340Glu
ENST00000674127.1:c.997C>A (GLA) ENSP00000501044.1:n.997C>A
ENST00000674127.2:c.*400C>A (GLA) ENSP00000501044.2:n.*400C>A
ENST00000674142.1:n.1201C>A (GLA)
ENST00000674634.2:c.897C>A (GLA) ENSP00000502629.2:p.Asp299Glu
ENST00000675592.1:c.801+313C>A (GLA) ENSP00000502239.1:n.801+313C>A
ENST00000675799.1:c.*422C>A (GLA) ENSP00000502661.1:n.*422C>A
ENST00000675968.1:n.3768C>A (GLA)
ENST00000676156.1:c.861C>A (GLA) ENSP00000501730.1:p.Asp287Glu
ENST00000676372.1:c.963C>A (GLA) ENSP00000502805.1:n.963C>A
ENST00000710365.1:c.972C>A (GLA) ENSP00000518234.1:p.Asp324Glu
XR_938397.1:n.982C>A (GLA)
XR_938397.2:n.1003C>A (GLA)