Canonical Allele Identifier: CA2448297474

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397918A= , CM000685.2:g.101397918A=	GRCh38
NC_000023.10:g.100652906A= , CM000685.1:g.100652906A=	GRCh37
NC_000023.9:g.100539562A=	NCBI36
NG_007119.1:g.15046T= , LRG_672:g.15046T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*684T= (GLA)	ENSP00000501044.2:n.*684T=
ENST00000710365.1:c.1256T= (GLA)	ENSP00000518234.1:p.Leu419=
ENST00000218516.4:c.1181T= (GLA) MANE Select	ENSP00000218516.4:p.Leu394=
ENST00000466414.2:n.1317T= (GLA)
ENST00000468823.2:n.2603T= (GLA)
ENST00000479445.2:n.1795T= (GLA)
ENST00000649178.1:c.1304T= (GLA)	ENSP00000498186.1:p.Leu435=
ENST00000674127.1:c.1281T= (GLA)	ENSP00000501044.1:n.1281T=
ENST00000674142.1:n.1421+64T= (GLA)
ENST00000675592.1:c.983T= (GLA)	ENSP00000502239.1:p.Leu328=
ENST00000675799.1:c.*706T= (GLA)	ENSP00000502661.1:n.*706T=
ENST00000675968.1:n.4052T= (GLA)
ENST00000676156.1:c.1145T= (GLA)	ENSP00000501730.1:p.Leu382=
ENST00000676372.1:c.1247T= (GLA)	ENSP00000502805.1:n.1247T=
ENST00000218516.3:c.1181T= (GLA)	ENSP00000218516.3:p.Leu394=
ENST00000409170.3:c.300+2461A= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2461A=
ENST00000409338.5:c.177+6096A= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6096A=
ENST00000466414.1:n.507T= (GLA)
ENST00000493905.6:c.*569T= (GLA)	ENSP00000476935.1:n.*569T=
NM_000169.2:c.1181T= , LRG_672t1:c.1181T= (GLA)	NP_000160.1:p.Leu394=
NM_001199973.1:c.408+2461A= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2461A=
NM_001199974.1:c.285+6096A= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6096A=
XR_938397.1:n.1266T= (GLA)
XR_938397.2:n.1287T= (GLA)
NM_001199973.2:c.300+2461A= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2461A=
NM_001199974.2:c.177+6096A= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6096A=
NM_000169.3:c.1181T= (GLA) MANE Select	NP_000160.1:p.Leu394=
NR_164783.1:n.1260T= (GLA)