Canonical Allele Identifier: CA517736479

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2176001
• ClinVar RCV Id: RCV002605884
• dbSNP Id: rs1555984805
• gnomAD v2: X-100652977-A-G
• gnomAD v4: X-101397989-A-G
• MyVariant Identifiers: chrX:g.100652977A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397989A>G , CM000685.2:g.101397989A>G	GRCh38
NC_000023.10:g.100652977A>G , CM000685.1:g.100652977A>G	GRCh37
NC_000023.9:g.100539633A>G	NCBI36
NG_007119.1:g.14975T>C , LRG_672:g.14975T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*556T>C (GLA)	ENSP00000501124.2:n.*556T>C
ENST00000674127.2:c.*613T>C (GLA)	ENSP00000501044.2:n.*613T>C
ENST00000710365.1:c.1185T>C (GLA)	ENSP00000518234.1:p.Ala395=
ENST00000218516.4:c.1110T>C (GLA) MANE Select	ENSP00000218516.4:p.Ala370=
ENST00000466414.2:n.1246T>C (GLA)
ENST00000468823.2:n.2532T>C (GLA)
ENST00000479445.2:n.1724T>C (GLA)
ENST00000480513.6:c.*418T>C (GLA)	ENSP00000497055.1:n.*418T>C
ENST00000486121.6:c.1155T>C (GLA)
ENST00000649178.1:c.1233T>C (GLA)	ENSP00000498186.1:p.Ala411=
ENST00000674127.1:c.1210T>C (GLA)	ENSP00000501044.1:n.1210T>C
ENST00000674142.1:n.1414T>C (GLA)
ENST00000675592.1:c.912T>C (GLA)	ENSP00000502239.1:p.Ala304=
ENST00000675799.1:c.*635T>C (GLA)	ENSP00000502661.1:n.*635T>C
ENST00000675968.1:n.3981T>C (GLA)
ENST00000676156.1:c.1074T>C (GLA)	ENSP00000501730.1:p.Ala358=
ENST00000676372.1:c.1176T>C (GLA)	ENSP00000502805.1:n.1176T>C
ENST00000218516.3:c.1110T>C (GLA)	ENSP00000218516.3:p.Ala370=
ENST00000409170.3:c.300+2532A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2532A>G
ENST00000409338.5:c.177+6167A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6167A>G
ENST00000466414.1:n.436T>C (GLA)
ENST00000493905.6:c.*498T>C (GLA)	ENSP00000476935.1:n.*498T>C
NM_000169.2:c.1110T>C , LRG_672t1:c.1110T>C (GLA)	NP_000160.1:p.Ala370=
NM_001199973.1:c.408+2532A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2532A>G
NM_001199974.1:c.285+6167A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6167A>G
XR_938397.1:n.1195T>C (GLA)
XR_938397.2:n.1216T>C (GLA)
NM_001199973.2:c.300+2532A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2532A>G
NM_001199974.2:c.177+6167A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6167A>G
NM_000169.3:c.1110T>C (GLA) MANE Select	NP_000160.1:p.Ala370=
NR_164783.1:n.1189T>C (GLA)