Canonical Allele Identifier: CA333093084

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 516472
• ClinVar RCV Id: RCV000605883 ; RCV001190491 ; RCV001528556 ; RCV002457955
• dbSNP Id: rs901454780
• gnomAD v2: X-100653079-G-A
• gnomAD v4: X-101398091-G-A
• MyVariant Identifiers: chrX:g.100653079G>A (hg19) ; chrX:g.101398091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398091G>A , CM000685.2:g.101398091G>A	GRCh38
NC_000023.10:g.100653079G>A , CM000685.1:g.100653079G>A	GRCh37
NC_000023.9:g.100539735G>A	NCBI36
NG_007119.1:g.14873C>T , LRG_672:g.14873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*454C>T (GLA)	ENSP00000501124.2:n.*454C>T
ENST00000674127.2:c.*511C>T (GLA)	ENSP00000501044.2:n.*511C>T
ENST00000710365.1:c.1083C>T (GLA)	ENSP00000518234.1:p.Asn361=
ENST00000218516.4:c.1008C>T (GLA) MANE Select	ENSP00000218516.4:p.Asn336=
ENST00000466414.2:n.1144C>T (GLA)
ENST00000468823.2:n.2430C>T (GLA)
ENST00000479445.2:n.1622C>T (GLA)
ENST00000480513.6:c.*316C>T (GLA)	ENSP00000497055.1:n.*316C>T
ENST00000486121.6:c.1053C>T (GLA)
ENST00000649178.1:c.1131C>T (GLA)	ENSP00000498186.1:p.Asn377=
ENST00000674127.1:c.1108C>T (GLA)	ENSP00000501044.1:n.1108C>T
ENST00000674142.1:n.1312C>T (GLA)
ENST00000675592.1:c.810C>T (GLA)	ENSP00000502239.1:p.Asn270=
ENST00000675799.1:c.*533C>T (GLA)	ENSP00000502661.1:n.*533C>T
ENST00000675968.1:n.3879C>T (GLA)
ENST00000676156.1:c.972C>T (GLA)	ENSP00000501730.1:p.Asn324=
ENST00000676372.1:c.1074C>T (GLA)	ENSP00000502805.1:n.1074C>T
ENST00000218516.3:c.1008C>T (GLA)	ENSP00000218516.3:p.Asn336=
ENST00000409170.3:c.300+2634G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2634G>A
ENST00000409338.5:c.177+6269G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6269G>A
ENST00000466414.1:n.334C>T (GLA)
ENST00000493905.6:c.*396C>T (GLA)	ENSP00000476935.1:n.*396C>T
NM_000169.2:c.1008C>T , LRG_672t1:c.1008C>T (GLA)	NP_000160.1:p.Asn336=
NM_001199973.1:c.408+2634G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2634G>A
NM_001199974.1:c.285+6269G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6269G>A
XR_938397.1:n.1093C>T (GLA)
XR_938397.2:n.1114C>T (GLA)
NM_001199973.2:c.300+2634G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2634G>A
NM_001199974.2:c.177+6269G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6269G>A
NM_000169.3:c.1008C>T (GLA) MANE Select	NP_000160.1:p.Asn336=
NR_164783.1:n.1087C>T (GLA)