Canonical Allele Identifier: CA352394

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222460
• ClinVar RCV Id: RCV000236831 ; RCV001348930
• dbSNP Id: rs147737890
• MyVariant Identifiers: chrX:g.100653390G>T (hg19) ; chrX:g.101398402G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398402G>T , CM000685.2:g.101398402G>T	GRCh38
NC_000023.10:g.100653390G>T , CM000685.1:g.100653390G>T	GRCh37
NC_000023.9:g.100540046G>T	NCBI36
NG_007119.1:g.14562C>A , LRG_672:g.14562C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*413C>A (GLA)	ENSP00000501124.2:n.*413C>A
ENST00000674127.2:c.*470C>A (GLA)	ENSP00000501044.2:n.*470C>A
ENST00000710365.1:c.1042C>A (GLA)	ENSP00000518234.1:p.Pro348Thr
ENST00000218516.4:c.967C>A (GLA) MANE Select	ENSP00000218516.4:p.Pro323Thr
ENST00000466414.2:n.1103C>A (GLA)
ENST00000468823.2:n.2119C>A (GLA)
ENST00000479445.2:n.1581C>A (GLA)
ENST00000480513.6:c.*275C>A (GLA)	ENSP00000497055.1:n.*275C>A
ENST00000486121.6:c.1012C>A (GLA)
ENST00000649178.1:c.1090C>A (GLA)	ENSP00000498186.1:p.Pro364Thr
ENST00000674127.1:c.1067C>A (GLA)	ENSP00000501044.1:n.1067C>A
ENST00000674142.1:n.1271C>A (GLA)
ENST00000674634.2:c.967C>A (GLA)	ENSP00000502629.2:p.Pro323Thr
ENST00000675592.1:c.802-303C>A (GLA)	ENSP00000502239.1:n.802-303C>A
ENST00000675799.1:c.*492C>A (GLA)	ENSP00000502661.1:n.*492C>A
ENST00000675968.1:n.3838C>A (GLA)
ENST00000676156.1:c.931C>A (GLA)	ENSP00000501730.1:p.Pro311Thr
ENST00000676372.1:c.1033C>A (GLA)	ENSP00000502805.1:n.1033C>A
ENST00000218516.3:c.967C>A (GLA)	ENSP00000218516.3:p.Pro323Thr
ENST00000409170.3:c.300+2945G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2945G>T
ENST00000409338.5:c.177+6580G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6580G>T
ENST00000466414.1:n.293C>A (GLA)
ENST00000493905.6:c.*355C>A (GLA)	ENSP00000476935.1:n.*355C>A
NM_000169.2:c.967C>A , LRG_672t1:c.967C>A (GLA)	NP_000160.1:p.Pro323Thr
NM_001199973.1:c.408+2945G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2945G>T
NM_001199974.1:c.285+6580G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6580G>T
XR_938397.1:n.1052C>A (GLA)
XR_938397.2:n.1073C>A (GLA)
NM_001199973.2:c.300+2945G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2945G>T
NM_001199974.2:c.177+6580G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6580G>T
NM_000169.3:c.967C>A (GLA) MANE Select	NP_000160.1:p.Pro323Thr
NR_164783.1:n.1046C>A (GLA)