Canonical Allele Identifier: CA517736895

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1174614
• ClinVar RCV Id: RCV001528217
• dbSNP Id: rs2147472055
• MyVariant Identifiers: chrX:g.100653436G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398448G>C , CM000685.2:g.101398448G>C	GRCh38
NC_000023.10:g.100653436G>C , CM000685.1:g.100653436G>C	GRCh37
NC_000023.9:g.100540092G>C	NCBI36
NG_007119.1:g.14516C>G , LRG_672:g.14516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*367C>G (GLA)	ENSP00000501124.2:n.*367C>G
ENST00000674127.2:c.*424C>G (GLA)	ENSP00000501044.2:n.*424C>G
ENST00000710365.1:c.996C>G (GLA)	ENSP00000518234.1:p.Ala332=
ENST00000218516.4:c.921C>G (GLA) MANE Select	ENSP00000218516.4:p.Ala307=
ENST00000466414.2:n.1057C>G (GLA)
ENST00000468823.2:n.2073C>G (GLA)
ENST00000479445.2:n.1535C>G (GLA)
ENST00000480513.6:c.*229C>G (GLA)	ENSP00000497055.1:n.*229C>G
ENST00000486121.6:c.966C>G (GLA)
ENST00000649178.1:c.1044C>G (GLA)	ENSP00000498186.1:p.Ala348=
ENST00000674127.1:c.1021C>G (GLA)	ENSP00000501044.1:n.1021C>G
ENST00000674142.1:n.1225C>G (GLA)
ENST00000674634.2:c.921C>G (GLA)	ENSP00000502629.2:p.Ala307=
ENST00000675592.1:c.801+337C>G (GLA)	ENSP00000502239.1:n.801+337C>G
ENST00000675799.1:c.*446C>G (GLA)	ENSP00000502661.1:n.*446C>G
ENST00000675968.1:n.3792C>G (GLA)
ENST00000676156.1:c.885C>G (GLA)	ENSP00000501730.1:p.Ala295=
ENST00000676372.1:c.987C>G (GLA)	ENSP00000502805.1:n.987C>G
ENST00000218516.3:c.921C>G (GLA)	ENSP00000218516.3:p.Ala307=
ENST00000409170.3:c.300+2991G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2991G>C
ENST00000409338.5:c.177+6626G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6626G>C
ENST00000466414.1:n.247C>G (GLA)
ENST00000493905.6:c.*309C>G (GLA)	ENSP00000476935.1:n.*309C>G
NM_000169.2:c.921C>G , LRG_672t1:c.921C>G (GLA)	NP_000160.1:p.Ala307=
NM_001199973.1:c.408+2991G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2991G>C
NM_001199974.1:c.285+6626G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6626G>C
XR_938397.1:n.1006C>G (GLA)
XR_938397.2:n.1027C>G (GLA)
NM_001199973.2:c.300+2991G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2991G>C
NM_001199974.2:c.177+6626G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6626G>C
NM_000169.3:c.921C>G (GLA) MANE Select	NP_000160.1:p.Ala307=
NR_164783.1:n.1000C>G (GLA)