Canonical Allele Identifier: CA022141

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10717
• ClinVar RCV Id: RCV000011464 ; RCV000179267 ; RCV001185735
• dbSNP Id: rs104894830
• MyVariant Identifiers: chrX:g.100653471T>C (hg19) ; chrX:g.101398483T>C (hg38)
• PubMed: PMID:1846223 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398483T>C , CM000685.2:g.101398483T>C	GRCh38
NC_000023.10:g.100653471T>C , CM000685.1:g.100653471T>C	GRCh37
NC_000023.9:g.100540127T>C	NCBI36
NG_007119.1:g.14481A>G , LRG_672:g.14481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*332A>G (GLA)	ENSP00000501124.2:n.*332A>G
ENST00000674127.2:c.*389A>G (GLA)	ENSP00000501044.2:n.*389A>G
ENST00000710365.1:c.961A>G (GLA)	ENSP00000518234.1:p.Met321Val
ENST00000218516.4:c.886A>G (GLA) MANE Select	ENSP00000218516.4:p.Met296Val
ENST00000466414.2:n.1022A>G (GLA)
ENST00000468823.2:n.2038A>G (GLA)
ENST00000479445.2:n.1500A>G (GLA)
ENST00000480513.6:c.*194A>G (GLA)	ENSP00000497055.1:n.*194A>G
ENST00000486121.6:c.931A>G (GLA)
ENST00000649178.1:c.1009A>G (GLA)	ENSP00000498186.1:p.Met337Val
ENST00000674127.1:c.986A>G (GLA)	ENSP00000501044.1:n.986A>G
ENST00000674142.1:n.1190A>G (GLA)
ENST00000674634.2:c.886A>G (GLA)	ENSP00000502629.2:p.Met296Val
ENST00000675592.1:c.801+302A>G (GLA)	ENSP00000502239.1:n.801+302A>G
ENST00000675799.1:c.*411A>G (GLA)	ENSP00000502661.1:n.*411A>G
ENST00000675968.1:n.3757A>G (GLA)
ENST00000676156.1:c.850A>G (GLA)	ENSP00000501730.1:p.Met284Val
ENST00000676372.1:c.952A>G (GLA)	ENSP00000502805.1:n.952A>G
ENST00000218516.3:c.886A>G (GLA)	ENSP00000218516.3:p.Met296Val
ENST00000409170.3:c.300+3026T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3026T>C
ENST00000409338.5:c.177+6661T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6661T>C
ENST00000466414.1:n.212A>G (GLA)
ENST00000493905.6:c.*274A>G (GLA)	ENSP00000476935.1:n.*274A>G
NM_000169.2:c.886A>G , LRG_672t1:c.886A>G (GLA)	NP_000160.1:p.Met296Val
NM_001199973.1:c.408+3026T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3026T>C
NM_001199974.1:c.285+6661T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6661T>C
XR_938397.1:n.971A>G (GLA)
XR_938397.2:n.992A>G (GLA)
NM_001199973.2:c.300+3026T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3026T>C
NM_001199974.2:c.177+6661T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6661T>C
NM_000169.3:c.886A>G (GLA) MANE Select	NP_000160.1:p.Met296Val
NR_164783.1:n.965A>G (GLA)