Canonical Allele Identifier: CA517736862

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2748478
• ClinVar RCV Id: RCV003509390
• gnomAD v4: X-101398550-A-G
• MyVariant Identifiers: chrX:g.100653538A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398550A>G , CM000685.2:g.101398550A>G	GRCh38
NC_000023.10:g.100653538A>G , CM000685.1:g.100653538A>G	GRCh37
NC_000023.9:g.100540194A>G	NCBI36
NG_007119.1:g.14414T>C , LRG_672:g.14414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*265T>C (GLA)	ENSP00000501124.2:n.*265T>C
ENST00000674127.2:c.*322T>C (GLA)	ENSP00000501044.2:n.*322T>C
ENST00000710365.1:c.894T>C (GLA)	ENSP00000518234.1:p.Phe298=
ENST00000218516.4:c.819T>C (GLA) MANE Select	ENSP00000218516.4:p.Phe273=
ENST00000466414.2:n.955T>C (GLA)
ENST00000468823.2:n.1971T>C (GLA)
ENST00000479445.2:n.1433T>C (GLA)
ENST00000480513.6:c.*127T>C (GLA)	ENSP00000497055.1:n.*127T>C
ENST00000486121.6:c.864T>C (GLA)
ENST00000649178.1:c.942T>C (GLA)	ENSP00000498186.1:p.Phe314=
ENST00000674127.1:c.919T>C (GLA)	ENSP00000501044.1:n.919T>C
ENST00000674142.1:n.1123T>C (GLA)
ENST00000674634.2:c.819T>C (GLA)	ENSP00000502629.2:p.Phe273=
ENST00000675592.1:c.801+235T>C (GLA)	ENSP00000502239.1:n.801+235T>C
ENST00000675799.1:c.*344T>C (GLA)	ENSP00000502661.1:n.*344T>C
ENST00000675968.1:n.3690T>C (GLA)
ENST00000676156.1:c.783T>C (GLA)	ENSP00000501730.1:p.Phe261=
ENST00000676372.1:c.885T>C (GLA)	ENSP00000502805.1:n.885T>C
ENST00000218516.3:c.819T>C (GLA)	ENSP00000218516.3:p.Phe273=
ENST00000409170.3:c.300+3093A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3093A>G
ENST00000409338.5:c.177+6728A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6728A>G
ENST00000466414.1:n.145T>C (GLA)
ENST00000468823.1:n.585T>C (GLA)
ENST00000493905.6:c.*207T>C (GLA)	ENSP00000476935.1:n.*207T>C
NM_000169.2:c.819T>C , LRG_672t1:c.819T>C (GLA)	NP_000160.1:p.Phe273=
NM_001199973.1:c.408+3093A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3093A>G
NM_001199974.1:c.285+6728A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6728A>G
XR_938397.1:n.904T>C (GLA)
XR_938397.2:n.925T>C (GLA)
NM_001199973.2:c.300+3093A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3093A>G
NM_001199974.2:c.177+6728A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6728A>G
NM_000169.3:c.819T>C (GLA) MANE Select	NP_000160.1:p.Phe273=
NR_164783.1:n.898T>C (GLA)