Canonical Allele Identifier: CA413922640
Community Standard Title: NM_000169.3(GLA):c.869T>C (p.Met290Thr)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398500A>G , CM000685.2:g.101398500A>G GRCh38
NC_000023.10:g.100653488A>G , CM000685.1:g.100653488A>G GRCh37
NC_000023.9:g.100540144A>G NCBI36
NG_007119.1:g.14464T>C , LRG_672:g.14464T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.869T>C (GLA) MANE Select NP_000160.1:p.Met290Thr
ENST00000218516.4:c.869T>C (GLA) MANE Select ENSP00000218516.4:p.Met290Thr
NM_000169.2:c.869T>C , LRG_672t1:c.869T>C (GLA) NP_000160.1:p.Met290Thr
NM_001199973.1:c.408+3043A>G (RPL36A-HNRNPH2) NP_001186902.1:n.408+3043A>G
NM_001199973.2:c.300+3043A>G (RPL36A-HNRNPH2) NP_001186902.2:n.300+3043A>G
NM_001199974.1:c.285+6678A>G (RPL36A-HNRNPH2) NP_001186903.1:n.285+6678A>G
NM_001199974.2:c.177+6678A>G (RPL36A-HNRNPH2) NP_001186903.2:n.177+6678A>G
NR_164783.1:n.948T>C (GLA)
ENST00000218516.3:c.869T>C (GLA) ENSP00000218516.3:p.Met290Thr
ENST00000409170.3:c.300+3043A>G (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3043A>G
ENST00000409338.5:c.177+6678A>G (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6678A>G
ENST00000466414.1:n.195T>C (GLA)
ENST00000466414.2:n.1005T>C (GLA)
ENST00000468823.2:n.2021T>C (GLA)
ENST00000479445.2:n.1483T>C (GLA)
ENST00000480513.6:c.*177T>C (GLA) ENSP00000497055.1:n.*177T>C
ENST00000486121.6:c.914T>C (GLA)
ENST00000486121.7:c.*315T>C (GLA) ENSP00000501124.2:n.*315T>C
ENST00000493905.6:c.*257T>C (GLA) ENSP00000476935.1:n.*257T>C
ENST00000649178.1:c.992T>C (GLA) ENSP00000498186.1:p.Met331Thr
ENST00000674127.1:c.969T>C (GLA) ENSP00000501044.1:n.969T>C
ENST00000674127.2:c.*372T>C (GLA) ENSP00000501044.2:n.*372T>C
ENST00000674142.1:n.1173T>C (GLA)
ENST00000674634.2:c.869T>C (GLA) ENSP00000502629.2:p.Met290Thr
ENST00000675592.1:c.801+285T>C (GLA) ENSP00000502239.1:n.801+285T>C
ENST00000675799.1:c.*394T>C (GLA) ENSP00000502661.1:n.*394T>C
ENST00000675968.1:n.3740T>C (GLA)
ENST00000676156.1:c.833T>C (GLA) ENSP00000501730.1:p.Met278Thr
ENST00000676372.1:c.935T>C (GLA) ENSP00000502805.1:n.935T>C
ENST00000710365.1:c.944T>C (GLA) ENSP00000518234.1:p.Met315Thr
XR_938397.1:n.954T>C (GLA)
XR_938397.2:n.975T>C (GLA)