Canonical Allele Identifier: CA022178

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 179546
• ClinVar RCV Id: RCV000156338 ; RCV000823627 ; RCV003298170 ; RCV003137679
• dbSNP Id: rs398123224
• gnomAD v4: X-101398468-G-C
• MyVariant Identifiers: chrX:g.100653456G>C (hg19) ; chrX:g.101398468G>C (hg38)
• PubMed: PMID:2171331 ; PMID:7531540 ; PMID:11322659

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398468G>C , CM000685.2:g.101398468G>C	GRCh38
NC_000023.10:g.100653456G>C , CM000685.1:g.100653456G>C	GRCh37
NC_000023.9:g.100540112G>C	NCBI36
NG_007119.1:g.14496C>G , LRG_672:g.14496C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*347C>G (GLA)	ENSP00000501124.2:n.*347C>G
ENST00000674127.2:c.*404C>G (GLA)	ENSP00000501044.2:n.*404C>G
ENST00000710365.1:c.976C>G (GLA)	ENSP00000518234.1:p.Arg326Gly
ENST00000218516.4:c.901C>G (GLA) MANE Select	ENSP00000218516.4:p.Arg301Gly
ENST00000466414.2:n.1037C>G (GLA)
ENST00000468823.2:n.2053C>G (GLA)
ENST00000479445.2:n.1515C>G (GLA)
ENST00000480513.6:c.*209C>G (GLA)	ENSP00000497055.1:n.*209C>G
ENST00000486121.6:c.946C>G (GLA)
ENST00000649178.1:c.1024C>G (GLA)	ENSP00000498186.1:p.Arg342Gly
ENST00000674127.1:c.1001C>G (GLA)	ENSP00000501044.1:n.1001C>G
ENST00000674142.1:n.1205C>G (GLA)
ENST00000674634.2:c.901C>G (GLA)	ENSP00000502629.2:p.Arg301Gly
ENST00000675592.1:c.801+317C>G (GLA)	ENSP00000502239.1:n.801+317C>G
ENST00000675799.1:c.*426C>G (GLA)	ENSP00000502661.1:n.*426C>G
ENST00000675968.1:n.3772C>G (GLA)
ENST00000676156.1:c.865C>G (GLA)	ENSP00000501730.1:p.Arg289Gly
ENST00000676372.1:c.967C>G (GLA)	ENSP00000502805.1:n.967C>G
ENST00000218516.3:c.901C>G (GLA)	ENSP00000218516.3:p.Arg301Gly
ENST00000409170.3:c.300+3011G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3011G>C
ENST00000409338.5:c.177+6646G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6646G>C
ENST00000466414.1:n.227C>G (GLA)
ENST00000493905.6:c.*289C>G (GLA)	ENSP00000476935.1:n.*289C>G
NM_000169.2:c.901C>G , LRG_672t1:c.901C>G (GLA)	NP_000160.1:p.Arg301Gly
NM_001199973.1:c.408+3011G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3011G>C
NM_001199974.1:c.285+6646G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6646G>C
XR_938397.1:n.986C>G (GLA)
XR_938397.2:n.1007C>G (GLA)
NM_001199973.2:c.300+3011G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3011G>C
NM_001199974.2:c.177+6646G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6646G>C
NM_000169.3:c.901C>G (GLA) MANE Select	NP_000160.1:p.Arg301Gly
NR_164783.1:n.980C>G (GLA)