Canonical Allele Identifier: CA2448299200

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401793A= , CM000685.2:g.101401793A=	GRCh38
NC_000023.10:g.100656781A= , CM000685.1:g.100656781A=	GRCh37
NC_000023.9:g.100543437A=	NCBI36
NG_007119.1:g.11171T= , LRG_672:g.11171T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.386T= (GLA)	ENSP00000501124.2:p.Leu129=
ENST00000674127.2:c.386T= (GLA)	ENSP00000501044.2:p.Leu129=
ENST00000710365.1:c.461T= (GLA)	ENSP00000518234.1:p.Leu154=
ENST00000218516.4:c.386T= (GLA) MANE Select	ENSP00000218516.4:p.Leu129=
ENST00000466414.2:n.305T= (GLA)
ENST00000468823.2:n.447T= (GLA)
ENST00000479445.2:n.384T= (GLA)
ENST00000480513.6:c.386T= (GLA)	ENSP00000497055.1:p.Leu129=
ENST00000486121.6:c.316T= (GLA)
ENST00000649178.1:c.509T= (GLA)	ENSP00000498186.1:p.Leu170=
ENST00000674127.1:c.314T= (GLA)	ENSP00000501044.1:p.Leu105=
ENST00000674142.1:n.473T= (GLA)
ENST00000674634.2:c.386T= (GLA)	ENSP00000502629.2:p.Leu129=
ENST00000675592.1:c.386T= (GLA)	ENSP00000502239.1:p.Leu129=
ENST00000675799.1:c.386T= (GLA)	ENSP00000502661.1:p.Leu129=
ENST00000675968.1:n.447T= (GLA)
ENST00000676156.1:c.386T= (GLA)	ENSP00000501730.1:p.Leu129=
ENST00000676372.1:c.386T= (GLA)	ENSP00000502805.1:p.Leu129=
ENST00000218516.3:c.386T= (GLA)	ENSP00000218516.3:p.Leu129=
ENST00000409170.3:c.300+6336A= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6336A=
ENST00000409338.5:c.177+9971A= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9971A=
ENST00000479445.1:n.370T= (GLA)
ENST00000480513.5:n.316T= (GLA)
ENST00000486121.5:n.316T= (GLA)
ENST00000493905.6:c.386T= (GLA)	ENSP00000476935.1:p.Leu129=
NM_000169.2:c.386T= , LRG_672t1:c.386T= (GLA)	NP_000160.1:p.Leu129=
NM_001199973.1:c.408+6336A= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6336A=
NM_001199974.1:c.285+9971A= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9971A=
XR_938397.1:n.414T= (GLA)
XR_938397.2:n.435T= (GLA)
NM_001199973.2:c.300+6336A= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6336A=
NM_001199974.2:c.177+9971A= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9971A=
NM_000169.3:c.386T= (GLA) MANE Select	NP_000160.1:p.Leu129=
NR_164783.1:n.408T= (GLA)