Canonical Allele Identifier: CA031687

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 237124
• ClinVar RCV Id: RCV000231732 ; RCV001189725
• dbSNP Id: rs782634293
• ExAC: X:100653945 A / G
• gnomAD v2: X-100653945-A-G
• gnomAD v3: X-101398957-A-G
• gnomAD v4: X-101398957-A-G
• MyVariant Identifiers: chrX:g.100653945A>G (hg19) ; chrX:g.101398957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398957A>G , CM000685.2:g.101398957A>G	GRCh38
NC_000023.10:g.100653945A>G , CM000685.1:g.100653945A>G	GRCh37
NC_000023.9:g.100540601A>G	NCBI36
NG_007119.1:g.14007T>C , LRG_672:g.14007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-11T>C (GLA)	ENSP00000501124.2:n.*86-11T>C
ENST00000674127.2:c.*143-11T>C (GLA)	ENSP00000501044.2:n.*143-11T>C
ENST00000710365.1:c.715-11T>C (GLA)	ENSP00000518234.1:n.715-11T>C
ENST00000218516.4:c.640-11T>C (GLA) MANE Select	ENSP00000218516.4:n.640-11T>C
ENST00000466414.2:n.559-11T>C (GLA)
ENST00000468823.2:n.1575-11T>C (GLA)
ENST00000479445.2:n.1037-11T>C (GLA)
ENST00000480513.6:c.548-11T>C (GLA)	ENSP00000497055.1:n.548-11T>C
ENST00000486121.6:c.685-11T>C (GLA)
ENST00000649178.1:c.763-11T>C (GLA)	ENSP00000498186.1:n.763-11T>C
ENST00000674127.1:c.740-11T>C (GLA)	ENSP00000501044.1:n.740-11T>C
ENST00000674142.1:n.727-11T>C (GLA)
ENST00000674634.2:c.640-11T>C (GLA)	ENSP00000502629.2:n.640-11T>C
ENST00000675592.1:c.640-11T>C (GLA)	ENSP00000502239.1:n.640-11T>C
ENST00000675799.1:c.548-11T>C (GLA)	ENSP00000502661.1:n.548-11T>C
ENST00000675968.1:n.3283T>C (GLA)
ENST00000676156.1:c.604-11T>C (GLA)	ENSP00000501730.1:n.604-11T>C
ENST00000676372.1:c.640-11T>C (GLA)	ENSP00000502805.1:n.640-11T>C
ENST00000218516.3:c.640-11T>C (GLA)	ENSP00000218516.3:n.640-11T>C
ENST00000409170.3:c.300+3500A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3500A>G
ENST00000409338.5:c.177+7135A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7135A>G
ENST00000468823.1:n.189-11T>C (GLA)
ENST00000480513.5:n.478-11T>C (GLA)
ENST00000486121.5:n.685-11T>C (GLA)
ENST00000493905.6:c.*28-11T>C (GLA)	ENSP00000476935.1:n.*28-11T>C
NM_000169.2:c.640-11T>C , LRG_672t1:c.640-11T>C (GLA)	NP_000160.1:n.640-11T>C
NM_001199973.1:c.408+3500A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3500A>G
NM_001199974.1:c.285+7135A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7135A>G
XR_938397.1:n.725-11T>C (GLA)
XR_938397.2:n.746-11T>C (GLA)
NM_001199973.2:c.300+3500A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3500A>G
NM_001199974.2:c.177+7135A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7135A>G
NM_000169.3:c.640-11T>C (GLA) MANE Select	NP_000160.1:n.640-11T>C
NR_164783.1:n.719-11T>C (GLA)