Canonical Allele Identifier: CA2448297870

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397871T= , CM000685.2:g.101397871T=	GRCh38
NC_000023.10:g.100652859T= , CM000685.1:g.100652859T=	GRCh37
NC_000023.9:g.100539515T=	NCBI36
NG_007119.1:g.15093A= , LRG_672:g.15093A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*731A= (GLA)	ENSP00000501044.2:n.*731A=
ENST00000710365.1:c.1303A= (GLA)	ENSP00000518234.1:p.Thr435=
ENST00000218516.4:c.1228A= (GLA) MANE Select	ENSP00000218516.4:p.Thr410=
ENST00000466414.2:n.1364A= (GLA)
ENST00000468823.2:n.2650A= (GLA)
ENST00000479445.2:n.1842A= (GLA)
ENST00000649178.1:c.1351A= (GLA)	ENSP00000498186.1:p.Thr451=
ENST00000674127.1:c.1328A= (GLA)	ENSP00000501044.1:n.1328A=
ENST00000674142.1:n.1421+111A= (GLA)
ENST00000675592.1:c.1030A= (GLA)	ENSP00000502239.1:p.Thr344=
ENST00000675799.1:c.*753A= (GLA)	ENSP00000502661.1:n.*753A=
ENST00000675968.1:n.4099A= (GLA)
ENST00000676156.1:c.1192A= (GLA)	ENSP00000501730.1:p.Thr398=
ENST00000676372.1:c.1294A= (GLA)	ENSP00000502805.1:n.1294A=
ENST00000218516.3:c.1228A= (GLA)	ENSP00000218516.3:p.Thr410=
ENST00000409170.3:c.300+2414T= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2414T=
ENST00000409338.5:c.177+6049T= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6049T=
ENST00000466414.1:n.554A= (GLA)
ENST00000493905.6:c.*616A= (GLA)	ENSP00000476935.1:n.*616A=
NM_000169.2:c.1228A= , LRG_672t1:c.1228A= (GLA)	NP_000160.1:p.Thr410=
NM_001199973.1:c.408+2414T= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2414T=
NM_001199974.1:c.285+6049T= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6049T=
XR_938397.1:n.1313A= (GLA)
XR_938397.2:n.1334A= (GLA)
NM_001199973.2:c.300+2414T= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2414T=
NM_001199974.2:c.177+6049T= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6049T=
NM_000169.3:c.1228A= (GLA) MANE Select	NP_000160.1:p.Thr410=
NR_164783.1:n.1307A= (GLA)