Canonical Allele Identifier: CA413929340

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 453318
• ClinVar RCV Id: RCV000554768
• dbSNP Id: rs1555985814
• MyVariant Identifiers: chrX:g.100656691A>C (hg19) ; chrX:g.101401703A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401703A>C , CM000685.2:g.101401703A>C	GRCh38
NC_000023.10:g.100656691A>C , CM000685.1:g.100656691A>C	GRCh37
NC_000023.9:g.100543347A>C	NCBI36
NG_007119.1:g.11261T>G , LRG_672:g.11261T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.476T>G (GLA)	ENSP00000501124.2:p.Phe159Cys
ENST00000674127.2:c.476T>G (GLA)	ENSP00000501044.2:p.Phe159Cys
ENST00000710365.1:c.551T>G (GLA)	ENSP00000518234.1:p.Phe184Cys
ENST00000218516.4:c.476T>G (GLA) MANE Select	ENSP00000218516.4:p.Phe159Cys
ENST00000466414.2:n.395T>G (GLA)
ENST00000468823.2:n.537T>G (GLA)
ENST00000479445.2:n.474T>G (GLA)
ENST00000480513.6:c.476T>G (GLA)	ENSP00000497055.1:p.Phe159Cys
ENST00000486121.6:c.406T>G (GLA)
ENST00000649178.1:c.599T>G (GLA)	ENSP00000498186.1:p.Phe200Cys
ENST00000674127.1:c.404T>G (GLA)	ENSP00000501044.1:p.Phe135Cys
ENST00000674142.1:n.563T>G (GLA)
ENST00000674634.2:c.476T>G (GLA)	ENSP00000502629.2:p.Phe159Cys
ENST00000675592.1:c.476T>G (GLA)	ENSP00000502239.1:p.Phe159Cys
ENST00000675799.1:c.476T>G (GLA)	ENSP00000502661.1:p.Phe159Cys
ENST00000675968.1:n.537T>G (GLA)
ENST00000676156.1:c.476T>G (GLA)	ENSP00000501730.1:p.Phe159Cys
ENST00000676372.1:c.476T>G (GLA)	ENSP00000502805.1:p.Phe159Cys
ENST00000218516.3:c.476T>G (GLA)	ENSP00000218516.3:p.Phe159Cys
ENST00000409170.3:c.300+6246A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6246A>C
ENST00000409338.5:c.177+9881A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9881A>C
ENST00000479445.1:n.460T>G (GLA)
ENST00000480513.5:n.406T>G (GLA)
ENST00000486121.5:n.406T>G (GLA)
ENST00000493905.6:c.476T>G (GLA)	ENSP00000476935.1:p.Phe159Cys
NM_000169.2:c.476T>G , LRG_672t1:c.476T>G (GLA)	NP_000160.1:p.Phe159Cys
NM_001199973.1:c.408+6246A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6246A>C
NM_001199974.1:c.285+9881A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9881A>C
XR_938397.1:n.504T>G (GLA)
XR_938397.2:n.525T>G (GLA)
NM_001199973.2:c.300+6246A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6246A>C
NM_001199974.2:c.177+9881A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9881A>C
NM_000169.3:c.476T>G (GLA) MANE Select	NP_000160.1:p.Phe159Cys
NR_164783.1:n.498T>G (GLA)