Canonical Allele Identifier: CA2573055051

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1324474
• ClinVar RCV Id: RCV001782194 ; RCV002489830
• dbSNP Id: rs2147471075

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398032dup , CM000685.2:g.101398032dup	GRCh38
NC_000023.10:g.100653020dup , CM000685.1:g.100653020dup	GRCh37
NC_000023.9:g.100539676dup	NCBI36
NG_007119.1:g.14933dup , LRG_672:g.14933dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*514dup (GLA)	ENSP00000501124.2:n.*514dup
ENST00000674127.2:c.*571dup (GLA)	ENSP00000501044.2:n.*571dup
ENST00000710365.1:c.1143dup (GLA)	ENSP00000518234.1:p.Gln382AlafsTer18
ENST00000218516.4:c.1068dup (GLA) MANE Select	ENSP00000218516.4:p.Gln357AlafsTer18
ENST00000466414.2:n.1204dup (GLA)
ENST00000468823.2:n.2490dup (GLA)
ENST00000479445.2:n.1682dup (GLA)
ENST00000480513.6:c.*376dup (GLA)	ENSP00000497055.1:n.*376dup
ENST00000486121.6:c.1113dup (GLA)
ENST00000649178.1:c.1191dup (GLA)	ENSP00000498186.1:p.Gln398AlafsTer18
ENST00000674127.1:c.1168dup (GLA)	ENSP00000501044.1:n.1168dup
ENST00000674142.1:n.1372dup (GLA)
ENST00000675592.1:c.870dup (GLA)	ENSP00000502239.1:p.Gln291AlafsTer18
ENST00000675799.1:c.*593dup (GLA)	ENSP00000502661.1:n.*593dup
ENST00000675968.1:n.3939dup (GLA)
ENST00000676156.1:c.1032dup (GLA)	ENSP00000501730.1:p.Gln345AlafsTer18
ENST00000676372.1:c.1134dup (GLA)	ENSP00000502805.1:n.1134dup
ENST00000218516.3:c.1068dup (GLA)	ENSP00000218516.3:p.Gln357AlafsTer18
ENST00000409170.3:c.300+2575dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2575dup
ENST00000409338.5:c.177+6210dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6210dup
ENST00000466414.1:n.394dup (GLA)
ENST00000493905.6:c.*456dup (GLA)	ENSP00000476935.1:n.*456dup
NM_000169.2:c.1068dup , LRG_672t1:c.1068dup (GLA)	NP_000160.1:p.Gln357AlafsTer18
NM_001199973.1:c.408+2575dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2575dup
NM_001199974.1:c.285+6210dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6210dup
XR_938397.1:n.1153dup (GLA)
XR_938397.2:n.1174dup (GLA)
NM_001199973.2:c.300+2575dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2575dup
NM_001199974.2:c.177+6210dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6210dup
NM_000169.3:c.1068dup (GLA) MANE Select	NP_000160.1:p.Gln357AlafsTer18
NR_164783.1:n.1147dup (GLA)