Canonical Allele Identifier: CA16042047

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 370360
• ClinVar RCV Id: RCV000411879
• dbSNP Id: rs1057516429
• MyVariant Identifiers: chrX:g.100658924T>A (hg19) ; chrX:g.101403936T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403936T>A , CM000685.2:g.101403936T>A	GRCh38
NC_000023.10:g.100658924T>A , CM000685.1:g.100658924T>A	GRCh37
NC_000023.9:g.100545580T>A	NCBI36
NG_007119.1:g.9028A>T , LRG_672:g.9028A>T
NG_016327.1:g.734T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.244A>T (GLA)	ENSP00000501124.2:p.Lys82Ter
ENST00000674127.2:c.244A>T (GLA)	ENSP00000501044.2:p.Lys82Ter
ENST00000710365.1:c.319A>T (GLA)	ENSP00000518234.1:p.Lys107Ter
ENST00000218516.4:c.244A>T (GLA) MANE Select	ENSP00000218516.4:p.Lys82Ter
ENST00000466414.2:n.163A>T (GLA)
ENST00000468823.2:n.305A>T (GLA)
ENST00000479445.2:n.242A>T (GLA)
ENST00000480513.6:c.244A>T (GLA)	ENSP00000497055.1:p.Lys82Ter
ENST00000486121.6:c.174A>T (GLA)
ENST00000649178.1:c.367A>T (GLA)	ENSP00000498186.1:p.Lys123Ter
ENST00000674127.1:c.172A>T (GLA)	ENSP00000501044.1:p.Lys58Ter
ENST00000674142.1:n.331A>T (GLA)
ENST00000674634.2:c.244A>T (GLA)	ENSP00000502629.2:p.Lys82Ter
ENST00000675592.1:c.244A>T (GLA)	ENSP00000502239.1:p.Lys82Ter
ENST00000675799.1:c.244A>T (GLA)	ENSP00000502661.1:p.Lys82Ter
ENST00000675968.1:n.305A>T (GLA)
ENST00000676156.1:c.244A>T (GLA)	ENSP00000501730.1:p.Lys82Ter
ENST00000676372.1:c.244A>T (GLA)	ENSP00000502805.1:p.Lys82Ter
ENST00000218516.3:c.244A>T (GLA)	ENSP00000218516.3:p.Lys82Ter
ENST00000409170.3:c.301-8000T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8000T>A
ENST00000409338.5:c.178-8000T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8000T>A
ENST00000479445.1:n.228A>T (GLA)
ENST00000480513.5:n.174A>T (GLA)
ENST00000486121.5:n.174A>T (GLA)
ENST00000493905.6:c.244A>T (GLA)	ENSP00000476935.1:p.Lys82Ter
NM_000169.2:c.244A>T , LRG_672t1:c.244A>T (GLA)	NP_000160.1:p.Lys82Ter
NM_001199973.1:c.409-8000T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8000T>A
NM_001199974.1:c.286-8000T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8000T>A
XR_938397.1:n.272A>T (GLA)
XR_938397.2:n.293A>T (GLA)
NM_001199973.2:c.301-8000T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8000T>A
NM_001199974.2:c.178-8000T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8000T>A
NM_000169.3:c.244A>T (GLA) MANE Select	NP_000160.1:p.Lys82Ter
NR_164783.1:n.266A>T (GLA)