Canonical Allele Identifier: CA2448297626

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397998G= , CM000685.2:g.101397998G=	GRCh38
NC_000023.10:g.100652986G= , CM000685.1:g.100652986G=	GRCh37
NC_000023.9:g.100539642G=	NCBI36
NG_007119.1:g.14966C= , LRG_672:g.14966C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*547C= (GLA)	ENSP00000501124.2:n.*547C=
ENST00000674127.2:c.*604C= (GLA)	ENSP00000501044.2:n.*604C=
ENST00000710365.1:c.1176C= (GLA)	ENSP00000518234.1:p.Ile392=
ENST00000218516.4:c.1101C= (GLA) MANE Select	ENSP00000218516.4:p.Ile367=
ENST00000466414.2:n.1237C= (GLA)
ENST00000468823.2:n.2523C= (GLA)
ENST00000479445.2:n.1715C= (GLA)
ENST00000480513.6:c.*409C= (GLA)	ENSP00000497055.1:n.*409C=
ENST00000486121.6:c.1146C= (GLA)
ENST00000649178.1:c.1224C= (GLA)	ENSP00000498186.1:p.Ile408=
ENST00000674127.1:c.1201C= (GLA)	ENSP00000501044.1:n.1201C=
ENST00000674142.1:n.1405C= (GLA)
ENST00000675592.1:c.903C= (GLA)	ENSP00000502239.1:p.Ile301=
ENST00000675799.1:c.*626C= (GLA)	ENSP00000502661.1:n.*626C=
ENST00000675968.1:n.3972C= (GLA)
ENST00000676156.1:c.1065C= (GLA)	ENSP00000501730.1:p.Ile355=
ENST00000676372.1:c.1167C= (GLA)	ENSP00000502805.1:n.1167C=
ENST00000218516.3:c.1101C= (GLA)	ENSP00000218516.3:p.Ile367=
ENST00000409170.3:c.300+2541G= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2541G=
ENST00000409338.5:c.177+6176G= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6176G=
ENST00000466414.1:n.427C= (GLA)
ENST00000493905.6:c.*489C= (GLA)	ENSP00000476935.1:n.*489C=
NM_000169.2:c.1101C= , LRG_672t1:c.1101C= (GLA)	NP_000160.1:p.Ile367=
NM_001199973.1:c.408+2541G= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2541G=
NM_001199974.1:c.285+6176G= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6176G=
XR_938397.1:n.1186C= (GLA)
XR_938397.2:n.1207C= (GLA)
NM_001199973.2:c.300+2541G= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2541G=
NM_001199974.2:c.177+6176G= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6176G=
NM_000169.3:c.1101C= (GLA) MANE Select	NP_000160.1:p.Ile367=
NR_164783.1:n.1180C= (GLA)