Canonical Allele Identifier: CA2448297675

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398020C= , CM000685.2:g.101398020C=	GRCh38
NC_000023.10:g.100653008C= , CM000685.1:g.100653008C=	GRCh37
NC_000023.9:g.100539664C=	NCBI36
NG_007119.1:g.14944G= , LRG_672:g.14944G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*525G= (GLA)	ENSP00000501124.2:n.*525G=
ENST00000674127.2:c.*582G= (GLA)	ENSP00000501044.2:n.*582G=
ENST00000710365.1:c.1154G= (GLA)	ENSP00000518234.1:p.Gly385=
ENST00000218516.4:c.1079G= (GLA) MANE Select	ENSP00000218516.4:p.Gly360=
ENST00000466414.2:n.1215G= (GLA)
ENST00000468823.2:n.2501G= (GLA)
ENST00000479445.2:n.1693G= (GLA)
ENST00000480513.6:c.*387G= (GLA)	ENSP00000497055.1:n.*387G=
ENST00000486121.6:c.1124G= (GLA)
ENST00000649178.1:c.1202G= (GLA)	ENSP00000498186.1:p.Gly401=
ENST00000674127.1:c.1179G= (GLA)	ENSP00000501044.1:n.1179G=
ENST00000674142.1:n.1383G= (GLA)
ENST00000675592.1:c.881G= (GLA)	ENSP00000502239.1:p.Gly294=
ENST00000675799.1:c.*604G= (GLA)	ENSP00000502661.1:n.*604G=
ENST00000675968.1:n.3950G= (GLA)
ENST00000676156.1:c.1043G= (GLA)	ENSP00000501730.1:p.Gly348=
ENST00000676372.1:c.1145G= (GLA)	ENSP00000502805.1:n.1145G=
ENST00000218516.3:c.1079G= (GLA)	ENSP00000218516.3:p.Gly360=
ENST00000409170.3:c.300+2563C= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2563C=
ENST00000409338.5:c.177+6198C= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6198C=
ENST00000466414.1:n.405G= (GLA)
ENST00000493905.6:c.*467G= (GLA)	ENSP00000476935.1:n.*467G=
NM_000169.2:c.1079G= , LRG_672t1:c.1079G= (GLA)	NP_000160.1:p.Gly360=
NM_001199973.1:c.408+2563C= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2563C=
NM_001199974.1:c.285+6198C= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6198C=
XR_938397.1:n.1164G= (GLA)
XR_938397.2:n.1185G= (GLA)
NM_001199973.2:c.300+2563C= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2563C=
NM_001199974.2:c.177+6198C= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6198C=
NM_000169.3:c.1079G= (GLA) MANE Select	NP_000160.1:p.Gly360=
NR_164783.1:n.1158G= (GLA)