Canonical Allele Identifier: CA2448298236

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398942T= , CM000685.2:g.101398942T=	GRCh38
NC_000023.10:g.100653930T= , CM000685.1:g.100653930T=	GRCh37
NC_000023.9:g.100540586T=	NCBI36
NG_007119.1:g.14022A= , LRG_672:g.14022A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*90A= (GLA)	ENSP00000501124.2:n.*90A=
ENST00000674127.2:c.*147A= (GLA)	ENSP00000501044.2:n.*147A=
ENST00000710365.1:c.719A= (GLA)	ENSP00000518234.1:p.Asn240=
ENST00000218516.4:c.644A= (GLA) MANE Select	ENSP00000218516.4:p.Asn215=
ENST00000466414.2:n.563A= (GLA)
ENST00000468823.2:n.1579A= (GLA)
ENST00000479445.2:n.1041A= (GLA)
ENST00000480513.6:c.552A= (GLA)	ENSP00000497055.1:p.Gln184=
ENST00000486121.6:c.689A= (GLA)
ENST00000649178.1:c.767A= (GLA)	ENSP00000498186.1:p.Asn256=
ENST00000674127.1:c.744A= (GLA)	ENSP00000501044.1:n.744A=
ENST00000674142.1:n.731A= (GLA)
ENST00000674634.2:c.644A= (GLA)	ENSP00000502629.2:p.Asn215=
ENST00000675592.1:c.644A= (GLA)	ENSP00000502239.1:p.Asn215=
ENST00000675799.1:c.552A= (GLA)	ENSP00000502661.1:p.Gln184=
ENST00000675968.1:n.3298A= (GLA)
ENST00000676156.1:c.608A= (GLA)	ENSP00000501730.1:p.Asn203=
ENST00000676372.1:c.644A= (GLA)	ENSP00000502805.1:p.Asn215=
ENST00000218516.3:c.644A= (GLA)	ENSP00000218516.3:p.Asn215=
ENST00000409170.3:c.300+3485T= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3485T=
ENST00000409338.5:c.177+7120T= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7120T=
ENST00000468823.1:n.193A= (GLA)
ENST00000480513.5:n.482A= (GLA)
ENST00000486121.5:n.689A= (GLA)
ENST00000493905.6:c.*32A= (GLA)	ENSP00000476935.1:n.*32A=
NM_000169.2:c.644A= , LRG_672t1:c.644A= (GLA)	NP_000160.1:p.Asn215=
NM_001199973.1:c.408+3485T= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3485T=
NM_001199974.1:c.285+7120T= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7120T=
XR_938397.1:n.729A= (GLA)
XR_938397.2:n.750A= (GLA)
NM_001199973.2:c.300+3485T= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3485T=
NM_001199974.2:c.177+7120T= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7120T=
NM_000169.3:c.644A= (GLA) MANE Select	NP_000160.1:p.Asn215=
NR_164783.1:n.723A= (GLA)