Canonical Allele Identifier: CA029990

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 512829
• ClinVar RCV Id: RCV000616689 ; RCV000863955 ; RCV002385918
• dbSNP Id: rs143084761
• ExAC: X:100662759 G / A
• gnomAD v2: X-100662759-G-A
• gnomAD v3: X-101407771-G-A
• gnomAD v4: X-101407771-G-A
• MyVariant Identifiers: chrX:g.100662759G>A (hg19) ; chrX:g.101407771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407771G>A , CM000685.2:g.101407771G>A	GRCh38
NC_000023.10:g.100662759G>A , CM000685.1:g.100662759G>A	GRCh37
NC_000023.9:g.100549415G>A	NCBI36
NG_007119.1:g.5193C>T , LRG_672:g.5193C>T
NG_016327.1:g.4569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.133C>T (GLA)	ENSP00000501124.2:p.Leu45=
ENST00000674127.2:c.133C>T (GLA)	ENSP00000501044.2:p.Leu45=
ENST00000710365.1:c.133C>T (GLA)	ENSP00000518234.1:p.Leu45=
ENST00000218516.4:c.133C>T (GLA) MANE Select	ENSP00000218516.4:p.Leu45=
ENST00000466414.2:n.52C>T (GLA)
ENST00000468823.2:n.194C>T (GLA)
ENST00000479445.2:n.131C>T (GLA)
ENST00000480513.6:c.133C>T (GLA)	ENSP00000497055.1:p.Leu45=
ENST00000486121.6:c.63C>T (GLA)
ENST00000649178.1:c.133C>T (GLA)	ENSP00000498186.1:p.Leu45=
ENST00000674127.1:c.61C>T (GLA)	ENSP00000501044.1:p.Leu21=
ENST00000674142.1:n.220C>T (GLA)
ENST00000674634.2:c.133C>T (GLA)	ENSP00000502629.2:p.Leu45=
ENST00000675592.1:c.133C>T (GLA)	ENSP00000502239.1:p.Leu45=
ENST00000675799.1:c.133C>T (GLA)	ENSP00000502661.1:p.Leu45=
ENST00000675968.1:n.194C>T (GLA)
ENST00000676156.1:c.133C>T (GLA)	ENSP00000501730.1:p.Leu45=
ENST00000676372.1:c.133C>T (GLA)	ENSP00000502805.1:p.Leu45=
ENST00000218516.3:c.133C>T (GLA)	ENSP00000218516.3:p.Leu45=
ENST00000409170.3:c.301-4165G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4165G>A
ENST00000409338.5:c.178-4165G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4165G>A
ENST00000479445.1:n.117C>T (GLA)
ENST00000480513.5:n.63C>T (GLA)
ENST00000486121.5:n.63C>T (GLA)
ENST00000493905.6:c.133C>T (GLA)	ENSP00000476935.1:p.Leu45=
NM_000169.2:c.133C>T , LRG_672t1:c.133C>T (GLA)	NP_000160.1:p.Leu45=
NM_001199973.1:c.409-4165G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4165G>A
NM_001199974.1:c.286-4165G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4165G>A
XR_938397.1:n.161C>T (GLA)
XR_938397.2:n.182C>T (GLA)
NM_001199973.2:c.301-4165G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4165G>A
NM_001199974.2:c.178-4165G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4165G>A
NM_000169.3:c.133C>T (GLA) MANE Select	NP_000160.1:p.Leu45=
NR_164783.1:n.155C>T (GLA)