Canonical Allele Identifier: CA517520678

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 928445
• ClinVar RCV Id: RCV001192310
• dbSNP Id: rs1928285510
• gnomAD v4: X-101400720-G-A
• MyVariant Identifiers: chrX:g.100655708G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400720G>A , CM000685.2:g.101400720G>A	GRCh38
NC_000023.10:g.100655708G>A , CM000685.1:g.100655708G>A	GRCh37
NC_000023.9:g.100542364G>A	NCBI36
NG_007119.1:g.12244C>T , LRG_672:g.12244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*31C>T (GLA)	ENSP00000501124.2:n.*31C>T
ENST00000674127.2:c.*31C>T (GLA)	ENSP00000501044.2:n.*31C>T
ENST00000710365.1:c.660C>T (GLA)	ENSP00000518234.1:p.Gly220=
ENST00000218516.4:c.585C>T (GLA) MANE Select	ENSP00000218516.4:p.Gly195=
ENST00000466414.2:n.504C>T (GLA)
ENST00000468823.2:n.1520C>T (GLA)
ENST00000479445.2:n.982C>T (GLA)
ENST00000480513.6:c.547+912C>T (GLA)	ENSP00000497055.1:n.547+912C>T
ENST00000486121.6:c.630C>T (GLA)
ENST00000649178.1:c.708C>T (GLA)	ENSP00000498186.1:p.Gly236=
ENST00000674127.1:c.628C>T (GLA)	ENSP00000501044.1:n.628C>T
ENST00000674142.1:n.672C>T (GLA)
ENST00000674634.2:c.585C>T (GLA)	ENSP00000502629.2:p.Gly195=
ENST00000675592.1:c.585C>T (GLA)	ENSP00000502239.1:p.Gly195=
ENST00000675799.1:c.547+912C>T (GLA)	ENSP00000502661.1:n.547+912C>T
ENST00000675968.1:n.1520C>T (GLA)
ENST00000676156.1:c.549C>T (GLA)	ENSP00000501730.1:p.Gly183=
ENST00000676372.1:c.585C>T (GLA)	ENSP00000502805.1:p.Gly195=
ENST00000218516.3:c.585C>T (GLA)	ENSP00000218516.3:p.Gly195=
ENST00000409170.3:c.300+5263G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5263G>A
ENST00000409338.5:c.177+8898G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8898G>A
ENST00000468823.1:n.134C>T (GLA)
ENST00000480513.5:n.477+912C>T (GLA)
ENST00000486121.5:n.630C>T (GLA)
ENST00000493905.6:c.585C>T (GLA)	ENSP00000476935.1:p.Gly195=
NM_000169.2:c.585C>T , LRG_672t1:c.585C>T (GLA)	NP_000160.1:p.Gly195=
NM_001199973.1:c.408+5263G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5263G>A
NM_001199974.1:c.285+8898G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8898G>A
XR_938397.1:n.613C>T (GLA)
XR_938397.2:n.634C>T (GLA)
NM_001199973.2:c.300+5263G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5263G>A
NM_001199974.2:c.177+8898G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8898G>A
NM_000169.3:c.585C>T (GLA) MANE Select	NP_000160.1:p.Gly195=
NR_164783.1:n.607C>T (GLA)