Canonical Allele Identifier: CA517736898

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2857303
• ClinVar RCV Id: RCV003623356
• gnomAD v4: X-101398451-T-C
• MyVariant Identifiers: chrX:g.100653439T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398451T>C , CM000685.2:g.101398451T>C	GRCh38
NC_000023.10:g.100653439T>C , CM000685.1:g.100653439T>C	GRCh37
NC_000023.9:g.100540095T>C	NCBI36
NG_007119.1:g.14513A>G , LRG_672:g.14513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*364A>G (GLA)	ENSP00000501124.2:n.*364A>G
ENST00000674127.2:c.*421A>G (GLA)	ENSP00000501044.2:n.*421A>G
ENST00000710365.1:c.993A>G (GLA)	ENSP00000518234.1:p.Gln331=
ENST00000218516.4:c.918A>G (GLA) MANE Select	ENSP00000218516.4:p.Gln306=
ENST00000466414.2:n.1054A>G (GLA)
ENST00000468823.2:n.2070A>G (GLA)
ENST00000479445.2:n.1532A>G (GLA)
ENST00000480513.6:c.*226A>G (GLA)	ENSP00000497055.1:n.*226A>G
ENST00000486121.6:c.963A>G (GLA)
ENST00000649178.1:c.1041A>G (GLA)	ENSP00000498186.1:p.Gln347=
ENST00000674127.1:c.1018A>G (GLA)	ENSP00000501044.1:n.1018A>G
ENST00000674142.1:n.1222A>G (GLA)
ENST00000674634.2:c.918A>G (GLA)	ENSP00000502629.2:p.Gln306=
ENST00000675592.1:c.801+334A>G (GLA)	ENSP00000502239.1:n.801+334A>G
ENST00000675799.1:c.*443A>G (GLA)	ENSP00000502661.1:n.*443A>G
ENST00000675968.1:n.3789A>G (GLA)
ENST00000676156.1:c.882A>G (GLA)	ENSP00000501730.1:p.Gln294=
ENST00000676372.1:c.984A>G (GLA)	ENSP00000502805.1:n.984A>G
ENST00000218516.3:c.918A>G (GLA)	ENSP00000218516.3:p.Gln306=
ENST00000409170.3:c.300+2994T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2994T>C
ENST00000409338.5:c.177+6629T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6629T>C
ENST00000466414.1:n.244A>G (GLA)
ENST00000493905.6:c.*306A>G (GLA)	ENSP00000476935.1:n.*306A>G
NM_000169.2:c.918A>G , LRG_672t1:c.918A>G (GLA)	NP_000160.1:p.Gln306=
NM_001199973.1:c.408+2994T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2994T>C
NM_001199974.1:c.285+6629T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6629T>C
XR_938397.1:n.1003A>G (GLA)
XR_938397.2:n.1024A>G (GLA)
NM_001199973.2:c.300+2994T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2994T>C
NM_001199974.2:c.177+6629T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6629T>C
NM_000169.3:c.918A>G (GLA) MANE Select	NP_000160.1:p.Gln306=
NR_164783.1:n.997A>G (GLA)