Canonical Allele Identifier: CA413933532

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 917640
• ClinVar RCV Id: RCV001174740 ; RCV002436730
• dbSNP Id: rs868937910
• MyVariant Identifiers: chrX:g.100658873G>A (hg19) ; chrX:g.101403885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403885G>A , CM000685.2:g.101403885G>A	GRCh38
NC_000023.10:g.100658873G>A , CM000685.1:g.100658873G>A	GRCh37
NC_000023.9:g.100545529G>A	NCBI36
NG_007119.1:g.9079C>T , LRG_672:g.9079C>T
NG_016327.1:g.683G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.295C>T (GLA)	ENSP00000501124.2:p.Gln99Ter
ENST00000674127.2:c.295C>T (GLA)	ENSP00000501044.2:p.Gln99Ter
ENST00000710365.1:c.370C>T (GLA)	ENSP00000518234.1:p.Gln124Ter
ENST00000218516.4:c.295C>T (GLA) MANE Select	ENSP00000218516.4:p.Gln99Ter
ENST00000466414.2:n.214C>T (GLA)
ENST00000468823.2:n.356C>T (GLA)
ENST00000479445.2:n.293C>T (GLA)
ENST00000480513.6:c.295C>T (GLA)	ENSP00000497055.1:p.Gln99Ter
ENST00000486121.6:c.225C>T (GLA)
ENST00000649178.1:c.418C>T (GLA)	ENSP00000498186.1:p.Gln140Ter
ENST00000674127.1:c.223C>T (GLA)	ENSP00000501044.1:p.Gln75Ter
ENST00000674142.1:n.382C>T (GLA)
ENST00000674634.2:c.295C>T (GLA)	ENSP00000502629.2:p.Gln99Ter
ENST00000675592.1:c.295C>T (GLA)	ENSP00000502239.1:p.Gln99Ter
ENST00000675799.1:c.295C>T (GLA)	ENSP00000502661.1:p.Gln99Ter
ENST00000675968.1:n.356C>T (GLA)
ENST00000676156.1:c.295C>T (GLA)	ENSP00000501730.1:p.Gln99Ter
ENST00000676372.1:c.295C>T (GLA)	ENSP00000502805.1:p.Gln99Ter
ENST00000218516.3:c.295C>T (GLA)	ENSP00000218516.3:p.Gln99Ter
ENST00000409170.3:c.301-8051G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8051G>A
ENST00000409338.5:c.178-8051G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8051G>A
ENST00000479445.1:n.279C>T (GLA)
ENST00000480513.5:n.225C>T (GLA)
ENST00000486121.5:n.225C>T (GLA)
ENST00000493905.6:c.295C>T (GLA)	ENSP00000476935.1:p.Gln99Ter
NM_000169.2:c.295C>T , LRG_672t1:c.295C>T (GLA)	NP_000160.1:p.Gln99Ter
NM_001199973.1:c.409-8051G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8051G>A
NM_001199974.1:c.286-8051G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8051G>A
XR_938397.1:n.323C>T (GLA)
XR_938397.2:n.344C>T (GLA)
NM_001199973.2:c.301-8051G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8051G>A
NM_001199974.2:c.178-8051G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8051G>A
NM_000169.3:c.295C>T (GLA) MANE Select	NP_000160.1:p.Gln99Ter
NR_164783.1:n.317C>T (GLA)