Canonical Allele Identifier: CA2448298215

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398909C= , CM000685.2:g.101398909C=	GRCh38
NC_000023.10:g.100653897C= , CM000685.1:g.100653897C=	GRCh37
NC_000023.9:g.100540553C=	NCBI36
NG_007119.1:g.14055G= , LRG_672:g.14055G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*123G= (GLA)	ENSP00000501124.2:n.*123G=
ENST00000674127.2:c.*180G= (GLA)	ENSP00000501044.2:n.*180G=
ENST00000710365.1:c.752G= (GLA)	ENSP00000518234.1:p.Trp251=
ENST00000218516.4:c.677G= (GLA) MANE Select	ENSP00000218516.4:p.Trp226=
ENST00000466414.2:n.596G= (GLA)
ENST00000468823.2:n.1612G= (GLA)
ENST00000479445.2:n.1074G= (GLA)
ENST00000480513.6:c.585G= (GLA)	ENSP00000497055.1:p.Leu195=
ENST00000486121.6:c.722G= (GLA)
ENST00000649178.1:c.800G= (GLA)	ENSP00000498186.1:p.Trp267=
ENST00000674127.1:c.777G= (GLA)	ENSP00000501044.1:n.777G=
ENST00000674142.1:n.764G= (GLA)
ENST00000674634.2:c.677G= (GLA)	ENSP00000502629.2:p.Trp226=
ENST00000675592.1:c.677G= (GLA)	ENSP00000502239.1:p.Trp226=
ENST00000675799.1:c.585G= (GLA)	ENSP00000502661.1:p.Leu195=
ENST00000675968.1:n.3331G= (GLA)
ENST00000676156.1:c.641G= (GLA)	ENSP00000501730.1:p.Trp214=
ENST00000676372.1:c.677G= (GLA)	ENSP00000502805.1:p.Trp226=
ENST00000218516.3:c.677G= (GLA)	ENSP00000218516.3:p.Trp226=
ENST00000409170.3:c.300+3452C= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3452C=
ENST00000409338.5:c.177+7087C= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7087C=
ENST00000468823.1:n.226G= (GLA)
ENST00000480513.5:n.515G= (GLA)
ENST00000486121.5:n.722G= (GLA)
ENST00000493905.6:c.*65G= (GLA)	ENSP00000476935.1:n.*65G=
NM_000169.2:c.677G= , LRG_672t1:c.677G= (GLA)	NP_000160.1:p.Trp226=
NM_001199973.1:c.408+3452C= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3452C=
NM_001199974.1:c.285+7087C= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7087C=
XR_938397.1:n.762G= (GLA)
XR_938397.2:n.783G= (GLA)
NM_001199973.2:c.300+3452C= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3452C=
NM_001199974.2:c.177+7087C= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7087C=
NM_000169.3:c.677G= (GLA) MANE Select	NP_000160.1:p.Trp226=
NR_164783.1:n.756G= (GLA)