Canonical Allele Identifier: CA413927193

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1332431
• ClinVar RCV Id: RCV001805477
• dbSNP Id: rs1928280306
• MyVariant Identifiers: chrX:g.100655669C>A (hg19) ; chrX:g.101400681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400681C>A , CM000685.2:g.101400681C>A	GRCh38
NC_000023.10:g.100655669C>A , CM000685.1:g.100655669C>A	GRCh37
NC_000023.9:g.100542325C>A	NCBI36
NG_007119.1:g.12283G>T , LRG_672:g.12283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*70G>T (GLA)	ENSP00000501124.2:n.*70G>T
ENST00000674127.2:c.*70G>T (GLA)	ENSP00000501044.2:n.*70G>T
ENST00000710365.1:c.699G>T (GLA)	ENSP00000518234.1:p.Met233Ile
ENST00000218516.4:c.624G>T (GLA) MANE Select	ENSP00000218516.4:p.Met208Ile
ENST00000466414.2:n.543G>T (GLA)
ENST00000468823.2:n.1559G>T (GLA)
ENST00000479445.2:n.1021G>T (GLA)
ENST00000480513.6:c.547+951G>T (GLA)	ENSP00000497055.1:n.547+951G>T
ENST00000486121.6:c.669G>T (GLA)
ENST00000649178.1:c.747G>T (GLA)	ENSP00000498186.1:p.Met249Ile
ENST00000674127.1:c.667G>T (GLA)	ENSP00000501044.1:n.667G>T
ENST00000674142.1:n.711G>T (GLA)
ENST00000674634.2:c.624G>T (GLA)	ENSP00000502629.2:p.Met208Ile
ENST00000675592.1:c.624G>T (GLA)	ENSP00000502239.1:p.Met208Ile
ENST00000675799.1:c.547+951G>T (GLA)	ENSP00000502661.1:n.547+951G>T
ENST00000675968.1:n.1559G>T (GLA)
ENST00000676156.1:c.588G>T (GLA)	ENSP00000501730.1:p.Met196Ile
ENST00000676372.1:c.624G>T (GLA)	ENSP00000502805.1:p.Met208Ile
ENST00000218516.3:c.624G>T (GLA)	ENSP00000218516.3:p.Met208Ile
ENST00000409170.3:c.300+5224C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5224C>A
ENST00000409338.5:c.177+8859C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8859C>A
ENST00000468823.1:n.173G>T (GLA)
ENST00000480513.5:n.477+951G>T (GLA)
ENST00000486121.5:n.669G>T (GLA)
ENST00000493905.6:c.624G>T (GLA)	ENSP00000476935.1:p.Met208Ile
NM_000169.2:c.624G>T , LRG_672t1:c.624G>T (GLA)	NP_000160.1:p.Met208Ile
NM_001199973.1:c.408+5224C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5224C>A
NM_001199974.1:c.285+8859C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8859C>A
XR_938397.1:n.652G>T (GLA)
XR_938397.2:n.673G>T (GLA)
NM_001199973.2:c.300+5224C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5224C>A
NM_001199974.2:c.177+8859C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8859C>A
NM_000169.3:c.624G>T (GLA) MANE Select	NP_000160.1:p.Met208Ile
NR_164783.1:n.646G>T (GLA)