Canonical Allele Identifier: CA021617

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92549
• ClinVar RCV Id: RCV000078274 ; RCV001854374
• dbSNP Id: rs113173389
• MyVariant Identifiers: chrX:g.100658887C>T (hg19) ; chrX:g.101403899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403899C>T , CM000685.2:g.101403899C>T	GRCh38
NC_000023.10:g.100658887C>T , CM000685.1:g.100658887C>T	GRCh37
NC_000023.9:g.100545543C>T	NCBI36
NG_007119.1:g.9065G>A , LRG_672:g.9065G>A
NG_016327.1:g.697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.281G>A (GLA)	ENSP00000501124.2:p.Cys94Tyr
ENST00000674127.2:c.281G>A (GLA)	ENSP00000501044.2:p.Cys94Tyr
ENST00000710365.1:c.356G>A (GLA)	ENSP00000518234.1:p.Cys119Tyr
ENST00000218516.4:c.281G>A (GLA) MANE Select	ENSP00000218516.4:p.Cys94Tyr
ENST00000466414.2:n.200G>A (GLA)
ENST00000468823.2:n.342G>A (GLA)
ENST00000479445.2:n.279G>A (GLA)
ENST00000480513.6:c.281G>A (GLA)	ENSP00000497055.1:p.Cys94Tyr
ENST00000486121.6:c.211G>A (GLA)
ENST00000649178.1:c.404G>A (GLA)	ENSP00000498186.1:p.Cys135Tyr
ENST00000674127.1:c.209G>A (GLA)	ENSP00000501044.1:p.Cys70Tyr
ENST00000674142.1:n.368G>A (GLA)
ENST00000674634.2:c.281G>A (GLA)	ENSP00000502629.2:p.Cys94Tyr
ENST00000675592.1:c.281G>A (GLA)	ENSP00000502239.1:p.Cys94Tyr
ENST00000675799.1:c.281G>A (GLA)	ENSP00000502661.1:p.Cys94Tyr
ENST00000675968.1:n.342G>A (GLA)
ENST00000676156.1:c.281G>A (GLA)	ENSP00000501730.1:p.Cys94Tyr
ENST00000676372.1:c.281G>A (GLA)	ENSP00000502805.1:p.Cys94Tyr
ENST00000218516.3:c.281G>A (GLA)	ENSP00000218516.3:p.Cys94Tyr
ENST00000409170.3:c.301-8037C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8037C>T
ENST00000409338.5:c.178-8037C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8037C>T
ENST00000479445.1:n.265G>A (GLA)
ENST00000480513.5:n.211G>A (GLA)
ENST00000486121.5:n.211G>A (GLA)
ENST00000493905.6:c.281G>A (GLA)	ENSP00000476935.1:p.Cys94Tyr
NM_000169.2:c.281G>A , LRG_672t1:c.281G>A (GLA)	NP_000160.1:p.Cys94Tyr
NM_001199973.1:c.409-8037C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8037C>T
NM_001199974.1:c.286-8037C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8037C>T
XR_938397.1:n.309G>A (GLA)
XR_938397.2:n.330G>A (GLA)
NM_001199973.2:c.301-8037C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8037C>T
NM_001199974.2:c.178-8037C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8037C>T
NM_000169.3:c.281G>A (GLA) MANE Select	NP_000160.1:p.Cys94Tyr
NR_164783.1:n.303G>A (GLA)