Canonical Allele Identifier: CA413922855
Community Standard Title: NM_000169.3(GLA):c.851T>C (p.Met284Thr)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398518A>G , CM000685.2:g.101398518A>G GRCh38
NC_000023.10:g.100653506A>G , CM000685.1:g.100653506A>G GRCh37
NC_000023.9:g.100540162A>G NCBI36
NG_007119.1:g.14446T>C , LRG_672:g.14446T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.851T>C (GLA) MANE Select NP_000160.1:p.Met284Thr
ENST00000218516.4:c.851T>C (GLA) MANE Select ENSP00000218516.4:p.Met284Thr
NM_000169.2:c.851T>C , LRG_672t1:c.851T>C (GLA) NP_000160.1:p.Met284Thr
NM_001199973.1:c.408+3061A>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+3061A>G
NM_001199973.2:c.300+3061A>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+3061A>G
NM_001199974.1:c.285+6696A>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6696A>G
NM_001199974.2:c.177+6696A>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6696A>G
NR_164783.1:n.930T>C (GLA)
ENST00000218516.3:c.851T>C (GLA) ENSP00000218516.3:p.Met284Thr
ENST00000409170.3:c.300+3061A>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3061A>G
ENST00000409338.5:c.177+6696A>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6696A>G
ENST00000466414.1:n.177T>C (GLA)
ENST00000466414.2:n.987T>C (GLA)
ENST00000468823.1:n.617T>C (GLA)
ENST00000468823.2:n.2003T>C (GLA)
ENST00000479445.2:n.1465T>C (GLA)
ENST00000480513.6:c.*159T>C (GLA) ENSP00000497055.1:n.*159T>C
ENST00000486121.6:c.896T>C (GLA)
ENST00000486121.7:c.*297T>C (GLA) ENSP00000501124.2:n.*297T>C
ENST00000493905.6:c.*239T>C (GLA) ENSP00000476935.1:n.*239T>C
ENST00000649178.1:c.974T>C (GLA) ENSP00000498186.1:p.Met325Thr
ENST00000674127.1:c.951T>C (GLA) ENSP00000501044.1:n.951T>C
ENST00000674127.2:c.*354T>C (GLA) ENSP00000501044.2:n.*354T>C
ENST00000674142.1:n.1155T>C (GLA)
ENST00000674634.2:c.851T>C (GLA) ENSP00000502629.2:p.Met284Thr
ENST00000675592.1:c.801+267T>C (GLA) ENSP00000502239.1:n.801+267T>C
ENST00000675799.1:c.*376T>C (GLA) ENSP00000502661.1:n.*376T>C
ENST00000675968.1:n.3722T>C (GLA)
ENST00000676156.1:c.815T>C (GLA) ENSP00000501730.1:p.Met272Thr
ENST00000676372.1:c.917T>C (GLA) ENSP00000502805.1:n.917T>C
ENST00000710365.1:c.926T>C (GLA) ENSP00000518234.1:p.Met309Thr
XR_938397.1:n.936T>C (GLA)
XR_938397.2:n.957T>C (GLA)