Canonical Allele Identifier: CA10473419

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs782588896
• ExAC: X:100655745 C / CCAT
• MyVariant Identifiers: chrX:g.100655745_100655746insCAT (hg19) ; chrX:g.101400757_101400758insCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400758_101400759insATC , CM000685.2:g.101400758_101400759insATC	GRCh38
NC_000023.10:g.100655746_100655747insATC , CM000685.1:g.100655746_100655747insATC	GRCh37
NC_000023.9:g.100542402_100542403insATC	NCBI36
NG_007119.1:g.12206_12207insATG , LRG_672:g.12206_12207insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-1_663insATG (GLA)	ENSP00000501124.2:n.663-1_663insATG
ENST00000674127.2:c.663-1_663insATG (GLA)	ENSP00000501044.2:n.663-1_663insATG
ENST00000710365.1:c.623-1_623insATG (GLA)	ENSP00000518234.1:n.623-1_623insATG
ENST00000218516.4:c.548-1_548insATG (GLA) MANE Select	ENSP00000218516.4:n.548-1_548insATG
ENST00000466414.2:n.467-1_467insATG (GLA)
ENST00000468823.2:n.1482_1483insATG (GLA)
ENST00000479445.2:n.945-1_945insATG (GLA)
ENST00000480513.6:c.547+874_547+875insATG (GLA)	ENSP00000497055.1:n.547+874_547+875insATG
ENST00000486121.6:c.593-1_593insATG (GLA)
ENST00000649178.1:c.671-1_671insATG (GLA)	ENSP00000498186.1:n.671-1_671insATG
ENST00000674127.1:c.591-1_591insATG (GLA)	ENSP00000501044.1:n.591-1_591insATG
ENST00000674142.1:n.635-1_635insATG (GLA)
ENST00000674634.2:c.548-1_548insATG (GLA)	ENSP00000502629.2:n.548-1_548insATG
ENST00000675592.1:c.548-1_548insATG (GLA)	ENSP00000502239.1:n.548-1_548insATG
ENST00000675799.1:c.547+874_547+875insATG (GLA)	ENSP00000502661.1:n.547+874_547+875insATG
ENST00000675968.1:n.1482_1483insATG (GLA)
ENST00000676156.1:c.512-1_512insATG (GLA)	ENSP00000501730.1:n.512-1_512insATG
ENST00000676372.1:c.548-1_548insATG (GLA)	ENSP00000502805.1:n.548-1_548insATG
ENST00000218516.3:c.548-1_548insATG (GLA)	ENSP00000218516.3:n.548-1_548insATG
ENST00000409170.3:c.300+5301_300+5302insATC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5301_300+5302insATC
ENST00000409338.5:c.177+8936_177+8937insATC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8936_177+8937insATC
ENST00000468823.1:n.96_97insATG (GLA)
ENST00000480513.5:n.477+874_477+875insATG (GLA)
ENST00000486121.5:n.593-1_593insATG (GLA)
ENST00000493905.6:c.548-1_548insATG (GLA)	ENSP00000476935.1:n.548-1_548insATG
NM_000169.2:c.548-1_548insATG , LRG_672t1:c.548-1_548insATG (GLA)	NP_000160.1:n.548-1_548insATG
NM_001199973.1:c.408+5301_408+5302insATC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5301_408+5302insATC
NM_001199974.1:c.285+8936_285+8937insATC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8936_285+8937insATC
XR_938397.1:n.576-1_576insATG (GLA)
XR_938397.2:n.597-1_597insATG (GLA)
NM_001199973.2:c.300+5301_300+5302insATC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5301_300+5302insATC
NM_001199974.2:c.177+8936_177+8937insATC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8936_177+8937insATC
NM_000169.3:c.548-1_548insATG (GLA) MANE Select	NP_000160.1:n.548-1_548insATG
NR_164783.1:n.570-1_570insATG (GLA)