Canonical Allele Identifier: CA021898

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92560
• ClinVar RCV Id: RCV000078288
• dbSNP Id: rs398123216
• MyVariant Identifiers: chrX:g.100653935C>A (hg19) ; chrX:g.101398947C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398947C>A , CM000685.2:g.101398947C>A	GRCh38
NC_000023.10:g.100653935C>A , CM000685.1:g.100653935C>A	GRCh37
NC_000023.9:g.100540591C>A	NCBI36
NG_007119.1:g.14017G>T , LRG_672:g.14017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-1G>T (GLA)	ENSP00000501124.2:n.*86-1G>T
ENST00000674127.2:c.*143-1G>T (GLA)	ENSP00000501044.2:n.*143-1G>T
ENST00000710365.1:c.715-1G>T (GLA)	ENSP00000518234.1:n.715-1G>T
ENST00000218516.4:c.640-1G>T (GLA) MANE Select	ENSP00000218516.4:n.640-1G>T
ENST00000466414.2:n.559-1G>T (GLA)
ENST00000468823.2:n.1575-1G>T (GLA)
ENST00000479445.2:n.1037-1G>T (GLA)
ENST00000480513.6:c.548-1G>T (GLA)	ENSP00000497055.1:n.548-1G>T
ENST00000486121.6:c.685-1G>T (GLA)
ENST00000649178.1:c.763-1G>T (GLA)	ENSP00000498186.1:n.763-1G>T
ENST00000674127.1:c.740-1G>T (GLA)	ENSP00000501044.1:n.740-1G>T
ENST00000674142.1:n.727-1G>T (GLA)
ENST00000674634.2:c.640-1G>T (GLA)	ENSP00000502629.2:n.640-1G>T
ENST00000675592.1:c.640-1G>T (GLA)	ENSP00000502239.1:n.640-1G>T
ENST00000675799.1:c.548-1G>T (GLA)	ENSP00000502661.1:n.548-1G>T
ENST00000675968.1:n.3293G>T (GLA)
ENST00000676156.1:c.604-1G>T (GLA)	ENSP00000501730.1:n.604-1G>T
ENST00000676372.1:c.640-1G>T (GLA)	ENSP00000502805.1:n.640-1G>T
ENST00000218516.3:c.640-1G>T (GLA)	ENSP00000218516.3:n.640-1G>T
ENST00000409170.3:c.300+3490C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3490C>A
ENST00000409338.5:c.177+7125C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7125C>A
ENST00000468823.1:n.189-1G>T (GLA)
ENST00000480513.5:n.478-1G>T (GLA)
ENST00000486121.5:n.685-1G>T (GLA)
ENST00000493905.6:c.*28-1G>T (GLA)	ENSP00000476935.1:n.*28-1G>T
NM_000169.2:c.640-1G>T , LRG_672t1:c.640-1G>T (GLA)	NP_000160.1:n.640-1G>T
NM_001199973.1:c.408+3490C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3490C>A
NM_001199974.1:c.285+7125C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7125C>A
XR_938397.1:n.725-1G>T (GLA)
XR_938397.2:n.746-1G>T (GLA)
NM_001199973.2:c.300+3490C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3490C>A
NM_001199974.2:c.177+7125C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7125C>A
NM_000169.3:c.640-1G>T (GLA) MANE Select	NP_000160.1:n.640-1G>T
NR_164783.1:n.719-1G>T (GLA)