Canonical Allele Identifier: CA413922318
Community Standard Title: NM_000169.3(GLA):c.894T>G (p.Asn298Lys)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398475A>C , CM000685.2:g.101398475A>C GRCh38
NC_000023.10:g.100653463A>C , CM000685.1:g.100653463A>C GRCh37
NC_000023.9:g.100540119A>C NCBI36
NG_007119.1:g.14489T>G , LRG_672:g.14489T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.894T>G (GLA) MANE Select NP_000160.1:p.Asn298Lys
ENST00000218516.4:c.894T>G (GLA) MANE Select ENSP00000218516.4:p.Asn298Lys
NM_000169.2:c.894T>G , LRG_672t1:c.894T>G (GLA) NP_000160.1:p.Asn298Lys
NM_001199973.1:c.408+3018A>C (RPL36A-HNRNPH2) NP_001186902.1:n.408+3018A>C
NM_001199973.2:c.300+3018A>C (RPL36A-HNRNPH2) NP_001186902.2:n.300+3018A>C
NM_001199974.1:c.285+6653A>C (RPL36A-HNRNPH2) NP_001186903.1:n.285+6653A>C
NM_001199974.2:c.177+6653A>C (RPL36A-HNRNPH2) NP_001186903.2:n.177+6653A>C
NR_164783.1:n.973T>G (GLA)
ENST00000218516.3:c.894T>G (GLA) ENSP00000218516.3:p.Asn298Lys
ENST00000409170.3:c.300+3018A>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3018A>C
ENST00000409338.5:c.177+6653A>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6653A>C
ENST00000466414.1:n.220T>G (GLA)
ENST00000466414.2:n.1030T>G (GLA)
ENST00000468823.2:n.2046T>G (GLA)
ENST00000479445.2:n.1508T>G (GLA)
ENST00000480513.6:c.*202T>G (GLA) ENSP00000497055.1:n.*202T>G
ENST00000486121.6:c.939T>G (GLA)
ENST00000486121.7:c.*340T>G (GLA) ENSP00000501124.2:n.*340T>G
ENST00000493905.6:c.*282T>G (GLA) ENSP00000476935.1:n.*282T>G
ENST00000649178.1:c.1017T>G (GLA) ENSP00000498186.1:p.Asn339Lys
ENST00000674127.1:c.994T>G (GLA) ENSP00000501044.1:n.994T>G
ENST00000674127.2:c.*397T>G (GLA) ENSP00000501044.2:n.*397T>G
ENST00000674142.1:n.1198T>G (GLA)
ENST00000674634.2:c.894T>G (GLA) ENSP00000502629.2:p.Asn298Lys
ENST00000675592.1:c.801+310T>G (GLA) ENSP00000502239.1:n.801+310T>G
ENST00000675799.1:c.*419T>G (GLA) ENSP00000502661.1:n.*419T>G
ENST00000675968.1:n.3765T>G (GLA)
ENST00000676156.1:c.858T>G (GLA) ENSP00000501730.1:p.Asn286Lys
ENST00000676372.1:c.960T>G (GLA) ENSP00000502805.1:n.960T>G
ENST00000710365.1:c.969T>G (GLA) ENSP00000518234.1:p.Asn323Lys
XR_938397.1:n.979T>G (GLA)
XR_938397.2:n.1000T>G (GLA)