Canonical Allele Identifier: CA2448297736

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398038A= , CM000685.2:g.101398038A=	GRCh38
NC_000023.10:g.100653026A= , CM000685.1:g.100653026A=	GRCh37
NC_000023.9:g.100539682A=	NCBI36
NG_007119.1:g.14926T= , LRG_672:g.14926T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*507T= (GLA)	ENSP00000501124.2:n.*507T=
ENST00000674127.2:c.*564T= (GLA)	ENSP00000501044.2:n.*564T=
ENST00000710365.1:c.1136T= (GLA)	ENSP00000518234.1:p.Ile379=
ENST00000218516.4:c.1061T= (GLA) MANE Select	ENSP00000218516.4:p.Ile354=
ENST00000466414.2:n.1197T= (GLA)
ENST00000468823.2:n.2483T= (GLA)
ENST00000479445.2:n.1675T= (GLA)
ENST00000480513.6:c.*369T= (GLA)	ENSP00000497055.1:n.*369T=
ENST00000486121.6:c.1106T= (GLA)
ENST00000649178.1:c.1184T= (GLA)	ENSP00000498186.1:p.Ile395=
ENST00000674127.1:c.1161T= (GLA)	ENSP00000501044.1:n.1161T=
ENST00000674142.1:n.1365T= (GLA)
ENST00000675592.1:c.863T= (GLA)	ENSP00000502239.1:p.Ile288=
ENST00000675799.1:c.*586T= (GLA)	ENSP00000502661.1:n.*586T=
ENST00000675968.1:n.3932T= (GLA)
ENST00000676156.1:c.1025T= (GLA)	ENSP00000501730.1:p.Ile342=
ENST00000676372.1:c.1127T= (GLA)	ENSP00000502805.1:n.1127T=
ENST00000218516.3:c.1061T= (GLA)	ENSP00000218516.3:p.Ile354=
ENST00000409170.3:c.300+2581A= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2581A=
ENST00000409338.5:c.177+6216A= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6216A=
ENST00000466414.1:n.387T= (GLA)
ENST00000493905.6:c.*449T= (GLA)	ENSP00000476935.1:n.*449T=
NM_000169.2:c.1061T= , LRG_672t1:c.1061T= (GLA)	NP_000160.1:p.Ile354=
NM_001199973.1:c.408+2581A= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2581A=
NM_001199974.1:c.285+6216A= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6216A=
XR_938397.1:n.1146T= (GLA)
XR_938397.2:n.1167T= (GLA)
NM_001199973.2:c.300+2581A= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2581A=
NM_001199974.2:c.177+6216A= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6216A=
NM_000169.3:c.1061T= (GLA) MANE Select	NP_000160.1:p.Ile354=
NR_164783.1:n.1140T= (GLA)