Canonical Allele Identifier: CA022231

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92573
• ClinVar RCV Id: RCV000078305 ; RCV001337760
• dbSNP Id: rs398123227
• MyVariant Identifiers: chrX:g.100653384C>T (hg19) ; chrX:g.101398396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398396C>T , CM000685.2:g.101398396C>T	GRCh38
NC_000023.10:g.100653384C>T , CM000685.1:g.100653384C>T	GRCh37
NC_000023.9:g.100540040C>T	NCBI36
NG_007119.1:g.14568G>A , LRG_672:g.14568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*419G>A (GLA)	ENSP00000501124.2:n.*419G>A
ENST00000674127.2:c.*476G>A (GLA)	ENSP00000501044.2:n.*476G>A
ENST00000710365.1:c.1048G>A (GLA)	ENSP00000518234.1:p.Gly350Ser
ENST00000218516.4:c.973G>A (GLA) MANE Select	ENSP00000218516.4:p.Gly325Ser
ENST00000466414.2:n.1109G>A (GLA)
ENST00000468823.2:n.2125G>A (GLA)
ENST00000479445.2:n.1587G>A (GLA)
ENST00000480513.6:c.*281G>A (GLA)	ENSP00000497055.1:n.*281G>A
ENST00000486121.6:c.1018G>A (GLA)
ENST00000649178.1:c.1096G>A (GLA)	ENSP00000498186.1:p.Gly366Ser
ENST00000674127.1:c.1073G>A (GLA)	ENSP00000501044.1:n.1073G>A
ENST00000674142.1:n.1277G>A (GLA)
ENST00000674634.2:c.973G>A (GLA)	ENSP00000502629.2:p.Gly325Ser
ENST00000675592.1:c.802-297G>A (GLA)	ENSP00000502239.1:n.802-297G>A
ENST00000675799.1:c.*498G>A (GLA)	ENSP00000502661.1:n.*498G>A
ENST00000675968.1:n.3844G>A (GLA)
ENST00000676156.1:c.937G>A (GLA)	ENSP00000501730.1:p.Gly313Ser
ENST00000676372.1:c.1039G>A (GLA)	ENSP00000502805.1:n.1039G>A
ENST00000218516.3:c.973G>A (GLA)	ENSP00000218516.3:p.Gly325Ser
ENST00000409170.3:c.300+2939C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2939C>T
ENST00000409338.5:c.177+6574C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6574C>T
ENST00000466414.1:n.299G>A (GLA)
ENST00000493905.6:c.*361G>A (GLA)	ENSP00000476935.1:n.*361G>A
NM_000169.2:c.973G>A , LRG_672t1:c.973G>A (GLA)	NP_000160.1:p.Gly325Ser
NM_001199973.1:c.408+2939C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2939C>T
NM_001199974.1:c.285+6574C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6574C>T
XR_938397.1:n.1058G>A (GLA)
XR_938397.2:n.1079G>A (GLA)
NM_001199973.2:c.300+2939C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2939C>T
NM_001199974.2:c.177+6574C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6574C>T
NM_000169.3:c.973G>A (GLA) MANE Select	NP_000160.1:p.Gly325Ser
NR_164783.1:n.1052G>A (GLA)