Canonical Allele Identifier: CA2695234954

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400684dup , CM000685.2:g.101400684dup	GRCh38
NC_000023.10:g.100655672dup , CM000685.1:g.100655672dup	GRCh37
NC_000023.9:g.100542328dup	NCBI36
NG_007119.1:g.12280dup , LRG_672:g.12280dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*67dup (GLA)	ENSP00000501124.2:n.*67dup
ENST00000674127.2:c.*67dup (GLA)	ENSP00000501044.2:n.*67dup
ENST00000710365.1:c.696dup (GLA)	ENSP00000518234.1:p.Met233TyrfsTer24
ENST00000218516.4:c.621dup (GLA) MANE Select	ENSP00000218516.4:p.Met208TyrfsTer24
ENST00000466414.2:n.540dup (GLA)
ENST00000468823.2:n.1556dup (GLA)
ENST00000479445.2:n.1018dup (GLA)
ENST00000480513.6:c.547+948dup (GLA)	ENSP00000497055.1:n.547+948dup
ENST00000486121.6:c.666dup (GLA)
ENST00000649178.1:c.744dup (GLA)	ENSP00000498186.1:p.Met249TyrfsTer24
ENST00000674127.1:c.664dup (GLA)	ENSP00000501044.1:n.664dup
ENST00000674142.1:n.708dup (GLA)
ENST00000674634.2:c.621dup (GLA)	ENSP00000502629.2:p.Met208TyrfsTer24
ENST00000675592.1:c.621dup (GLA)	ENSP00000502239.1:p.Met208TyrfsTer24
ENST00000675799.1:c.547+948dup (GLA)	ENSP00000502661.1:n.547+948dup
ENST00000675968.1:n.1556dup (GLA)
ENST00000676156.1:c.585dup (GLA)	ENSP00000501730.1:p.Met196TyrfsTer24
ENST00000676372.1:c.621dup (GLA)	ENSP00000502805.1:p.Met208TyrfsTer24
ENST00000218516.3:c.621dup (GLA)	ENSP00000218516.3:p.Met208TyrfsTer24
ENST00000409170.3:c.300+5227dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5227dup
ENST00000409338.5:c.177+8862dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8862dup
ENST00000468823.1:n.170dup (GLA)
ENST00000480513.5:n.477+948dup (GLA)
ENST00000486121.5:n.666dup (GLA)
ENST00000493905.6:c.621dup (GLA)	ENSP00000476935.1:p.Met208TyrfsTer?
NM_000169.2:c.621dup , LRG_672t1:c.621dup (GLA)	NP_000160.1:p.Met208TyrfsTer24
NM_001199973.1:c.408+5227dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5227dup
NM_001199974.1:c.285+8862dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8862dup
XR_938397.1:n.649dup (GLA)
XR_938397.2:n.670dup (GLA)
NM_001199973.2:c.300+5227dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5227dup
NM_001199974.2:c.177+8862dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8862dup
NM_000169.3:c.621dup (GLA) MANE Select	NP_000160.1:p.Met208TyrfsTer24
NR_164783.1:n.643dup (GLA)