Canonical Allele Identifier: CA413931058

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 997928
• ClinVar RCV Id: RCV001293592
• dbSNP Id: rs730880444
• MyVariant Identifiers: chrX:g.100656799T>G (hg19) ; chrX:g.101401811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401811T>G , CM000685.2:g.101401811T>G	GRCh38
NC_000023.10:g.100656799T>G , CM000685.1:g.100656799T>G	GRCh37
NC_000023.9:g.100543455T>G	NCBI36
NG_007119.1:g.11153A>C , LRG_672:g.11153A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.370-2A>C (GLA)	ENSP00000501124.2:n.370-2A>C
ENST00000674127.2:c.370-2A>C (GLA)	ENSP00000501044.2:n.370-2A>C
ENST00000710365.1:c.445-2A>C (GLA)	ENSP00000518234.1:n.445-2A>C
ENST00000218516.4:c.370-2A>C (GLA) MANE Select	ENSP00000218516.4:n.370-2A>C
ENST00000466414.2:n.289-2A>C (GLA)
ENST00000468823.2:n.431-2A>C (GLA)
ENST00000479445.2:n.368-2A>C (GLA)
ENST00000480513.6:c.370-2A>C (GLA)	ENSP00000497055.1:n.370-2A>C
ENST00000486121.6:c.300-2A>C (GLA)
ENST00000649178.1:c.493-2A>C (GLA)	ENSP00000498186.1:n.493-2A>C
ENST00000674127.1:c.298-2A>C (GLA)	ENSP00000501044.1:n.298-2A>C
ENST00000674142.1:n.457-2A>C (GLA)
ENST00000674634.2:c.370-2A>C (GLA)	ENSP00000502629.2:n.370-2A>C
ENST00000675592.1:c.370-2A>C (GLA)	ENSP00000502239.1:n.370-2A>C
ENST00000675799.1:c.370-2A>C (GLA)	ENSP00000502661.1:n.370-2A>C
ENST00000675968.1:n.431-2A>C (GLA)
ENST00000676156.1:c.370-2A>C (GLA)	ENSP00000501730.1:n.370-2A>C
ENST00000676372.1:c.370-2A>C (GLA)	ENSP00000502805.1:n.370-2A>C
ENST00000218516.3:c.370-2A>C (GLA)	ENSP00000218516.3:n.370-2A>C
ENST00000409170.3:c.300+6354T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6354T>G
ENST00000409338.5:c.177+9989T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9989T>G
ENST00000479445.1:n.354-2A>C (GLA)
ENST00000480513.5:n.300-2A>C (GLA)
ENST00000486121.5:n.300-2A>C (GLA)
ENST00000493905.6:c.370-2A>C (GLA)	ENSP00000476935.1:n.370-2A>C
NM_000169.2:c.370-2A>C , LRG_672t1:c.370-2A>C (GLA)	NP_000160.1:n.370-2A>C
NM_001199973.1:c.408+6354T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6354T>G
NM_001199974.1:c.285+9989T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9989T>G
XR_938397.1:n.398-2A>C (GLA)
XR_938397.2:n.419-2A>C (GLA)
NM_001199973.2:c.300+6354T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6354T>G
NM_001199974.2:c.177+9989T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9989T>G
NM_000169.3:c.370-2A>C (GLA) MANE Select	NP_000160.1:n.370-2A>C
NR_164783.1:n.392-2A>C (GLA)