Canonical Allele Identifier: CA021919

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 179331
• ClinVar RCV Id: RCV000156120
• dbSNP Id: rs727504794
• MyVariant Identifiers: chrX:g.100653931T>G (hg19) ; chrX:g.101398943T>G (hg38)
• PubMed: PMID:7531540 ; PMID:8395937 ; PMID:15702404 ; PMID:15886492 ; PMID:17555407 ; PMID:21598360 ; PMID:23568732

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398943T>G , CM000685.2:g.101398943T>G	GRCh38
NC_000023.10:g.100653931T>G , CM000685.1:g.100653931T>G	GRCh37
NC_000023.9:g.100540587T>G	NCBI36
NG_007119.1:g.14021A>C , LRG_672:g.14021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*89A>C (GLA)	ENSP00000501124.2:n.*89A>C
ENST00000674127.2:c.*146A>C (GLA)	ENSP00000501044.2:n.*146A>C
ENST00000710365.1:c.718A>C (GLA)	ENSP00000518234.1:p.Asn240His
ENST00000218516.4:c.643A>C (GLA) MANE Select	ENSP00000218516.4:p.Asn215His
ENST00000466414.2:n.562A>C (GLA)
ENST00000468823.2:n.1578A>C (GLA)
ENST00000479445.2:n.1040A>C (GLA)
ENST00000480513.6:c.551A>C (GLA)	ENSP00000497055.1:p.Gln184Pro
ENST00000486121.6:c.688A>C (GLA)
ENST00000649178.1:c.766A>C (GLA)	ENSP00000498186.1:p.Asn256His
ENST00000674127.1:c.743A>C (GLA)	ENSP00000501044.1:n.743A>C
ENST00000674142.1:n.730A>C (GLA)
ENST00000674634.2:c.643A>C (GLA)	ENSP00000502629.2:p.Asn215His
ENST00000675592.1:c.643A>C (GLA)	ENSP00000502239.1:p.Asn215His
ENST00000675799.1:c.551A>C (GLA)	ENSP00000502661.1:p.Gln184Pro
ENST00000675968.1:n.3297A>C (GLA)
ENST00000676156.1:c.607A>C (GLA)	ENSP00000501730.1:p.Asn203His
ENST00000676372.1:c.643A>C (GLA)	ENSP00000502805.1:p.Asn215His
ENST00000218516.3:c.643A>C (GLA)	ENSP00000218516.3:p.Asn215His
ENST00000409170.3:c.300+3486T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3486T>G
ENST00000409338.5:c.177+7121T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7121T>G
ENST00000468823.1:n.192A>C (GLA)
ENST00000480513.5:n.481A>C (GLA)
ENST00000486121.5:n.688A>C (GLA)
ENST00000493905.6:c.*31A>C (GLA)	ENSP00000476935.1:n.*31A>C
NM_000169.2:c.643A>C , LRG_672t1:c.643A>C (GLA)	NP_000160.1:p.Asn215His
NM_001199973.1:c.408+3486T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3486T>G
NM_001199974.1:c.285+7121T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7121T>G
XR_938397.1:n.728A>C (GLA)
XR_938397.2:n.749A>C (GLA)
NM_001199973.2:c.300+3486T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3486T>G
NM_001199974.2:c.177+7121T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7121T>G
NM_000169.3:c.643A>C (GLA) MANE Select	NP_000160.1:p.Asn215His
NR_164783.1:n.722A>C (GLA)