Canonical Allele Identifier: CA030642

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217384
• ClinVar RCV Id: RCV000209198 ; RCV000209589 ; RCV003128593
• dbSNP Id: rs782197638
• ExAC: X:100658807 C / T
• gnomAD v2: X-100658807-C-T
• gnomAD v4: X-101403819-C-T
• MyVariant Identifiers: chrX:g.100658807C>T (hg19) ; chrX:g.101403819C>T (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403819C>T , CM000685.2:g.101403819C>T	GRCh38
NC_000023.10:g.100658807C>T , CM000685.1:g.100658807C>T	GRCh37
NC_000023.9:g.100545463C>T	NCBI36
NG_007119.1:g.9145G>A , LRG_672:g.9145G>A
NG_016327.1:g.617C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.361G>A (GLA)	ENSP00000501124.2:p.Ala121Thr
ENST00000674127.2:c.361G>A (GLA)	ENSP00000501044.2:p.Ala121Thr
ENST00000710365.1:c.436G>A (GLA)	ENSP00000518234.1:p.Ala146Thr
ENST00000218516.4:c.361G>A (GLA) MANE Select	ENSP00000218516.4:p.Ala121Thr
ENST00000466414.2:n.280G>A (GLA)
ENST00000468823.2:n.422G>A (GLA)
ENST00000479445.2:n.359G>A (GLA)
ENST00000480513.6:c.361G>A (GLA)	ENSP00000497055.1:p.Ala121Thr
ENST00000486121.6:c.291G>A (GLA)
ENST00000649178.1:c.484G>A (GLA)	ENSP00000498186.1:p.Ala162Thr
ENST00000674127.1:c.289G>A (GLA)	ENSP00000501044.1:p.Ala97Thr
ENST00000674142.1:n.448G>A (GLA)
ENST00000674634.2:c.361G>A (GLA)	ENSP00000502629.2:p.Ala121Thr
ENST00000675592.1:c.361G>A (GLA)	ENSP00000502239.1:p.Ala121Thr
ENST00000675799.1:c.361G>A (GLA)	ENSP00000502661.1:p.Ala121Thr
ENST00000675968.1:n.422G>A (GLA)
ENST00000676156.1:c.361G>A (GLA)	ENSP00000501730.1:p.Ala121Thr
ENST00000676372.1:c.361G>A (GLA)	ENSP00000502805.1:p.Ala121Thr
ENST00000218516.3:c.361G>A (GLA)	ENSP00000218516.3:p.Ala121Thr
ENST00000409170.3:c.301-8117C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8117C>T
ENST00000409338.5:c.178-8117C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8117C>T
ENST00000479445.1:n.345G>A (GLA)
ENST00000480513.5:n.291G>A (GLA)
ENST00000486121.5:n.291G>A (GLA)
ENST00000493905.6:c.361G>A (GLA)	ENSP00000476935.1:p.Ala121Thr
NM_000169.2:c.361G>A , LRG_672t1:c.361G>A (GLA)	NP_000160.1:p.Ala121Thr
NM_001199973.1:c.409-8117C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8117C>T
NM_001199974.1:c.286-8117C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8117C>T
XR_938397.1:n.389G>A (GLA)
XR_938397.2:n.410G>A (GLA)
NM_001199973.2:c.301-8117C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8117C>T
NM_001199974.2:c.178-8117C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8117C>T
NM_000169.3:c.361G>A (GLA) MANE Select	NP_000160.1:p.Ala121Thr
NR_164783.1:n.383G>A (GLA)