Canonical Allele Identifier: CA353257

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217398
• ClinVar RCV Id: RCV000209382 ; RCV000209767
• dbSNP Id: rs869312154
• MyVariant Identifiers: chrX:g.100653790A>G (hg19) ; chrX:g.101398802A>G (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398802A>G , CM000685.2:g.101398802A>G	GRCh38
NC_000023.10:g.100653790A>G , CM000685.1:g.100653790A>G	GRCh37
NC_000023.9:g.100540446A>G	NCBI36
NG_007119.1:g.14162T>C , LRG_672:g.14162T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*230T>C (GLA)	ENSP00000501124.2:n.*230T>C
ENST00000674127.2:c.*287T>C (GLA)	ENSP00000501044.2:n.*287T>C
ENST00000710365.1:c.859T>C (GLA)	ENSP00000518234.1:p.Trp287Arg
ENST00000218516.4:c.784T>C (GLA) MANE Select	ENSP00000218516.4:p.Trp262Arg
ENST00000466414.2:n.703T>C (GLA)
ENST00000468823.2:n.1719T>C (GLA)
ENST00000479445.2:n.1181T>C (GLA)
ENST00000480513.6:c.*92T>C (GLA)	ENSP00000497055.1:n.*92T>C
ENST00000486121.6:c.829T>C (GLA)
ENST00000649178.1:c.907T>C (GLA)	ENSP00000498186.1:p.Trp303Arg
ENST00000674127.1:c.884T>C (GLA)	ENSP00000501044.1:n.884T>C
ENST00000674142.1:n.871T>C (GLA)
ENST00000674634.2:c.784T>C (GLA)	ENSP00000502629.2:p.Trp262Arg
ENST00000675592.1:c.784T>C (GLA)	ENSP00000502239.1:p.Trp262Arg
ENST00000675799.1:c.*92T>C (GLA)	ENSP00000502661.1:n.*92T>C
ENST00000675968.1:n.3438T>C (GLA)
ENST00000676156.1:c.748T>C (GLA)	ENSP00000501730.1:p.Trp250Arg
ENST00000676372.1:c.784T>C (GLA)	ENSP00000502805.1:p.Trp262Arg
ENST00000218516.3:c.784T>C (GLA)	ENSP00000218516.3:p.Trp262Arg
ENST00000409170.3:c.300+3345A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3345A>G
ENST00000409338.5:c.177+6980A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6980A>G
ENST00000468823.1:n.333T>C (GLA)
ENST00000493905.6:c.*172T>C (GLA)	ENSP00000476935.1:n.*172T>C
NM_000169.2:c.784T>C , LRG_672t1:c.784T>C (GLA)	NP_000160.1:p.Trp262Arg
NM_001199973.1:c.408+3345A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3345A>G
NM_001199974.1:c.285+6980A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6980A>G
XR_938397.1:n.869T>C (GLA)
XR_938397.2:n.890T>C (GLA)
NM_001199973.2:c.300+3345A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3345A>G
NM_001199974.2:c.177+6980A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6980A>G
NM_000169.3:c.784T>C (GLA) MANE Select	NP_000160.1:p.Trp262Arg
NR_164783.1:n.863T>C (GLA)