Canonical Allele Identifier: CA021839

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 167141
• ClinVar RCV Id: RCV000418558 ; RCV000798173 ; RCV003415998 ; RCV002362805
• dbSNP Id: rs372416832
• ExAC: X:100655674 A / G
• gnomAD v2: X-100655674-A-G
• gnomAD v3: X-101400686-A-G
• gnomAD v4: X-101400686-A-G
• MyVariant Identifiers: chrX:g.100655674A>G (hg19) ; chrX:g.101400686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400686A>G , CM000685.2:g.101400686A>G	GRCh38
NC_000023.10:g.100655674A>G , CM000685.1:g.100655674A>G	GRCh37
NC_000023.9:g.100542330A>G	NCBI36
NG_007119.1:g.12278T>C , LRG_672:g.12278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*65T>C (GLA)	ENSP00000501124.2:n.*65T>C
ENST00000674127.2:c.*65T>C (GLA)	ENSP00000501044.2:n.*65T>C
ENST00000710365.1:c.694T>C (GLA)	ENSP00000518234.1:p.Tyr232His
ENST00000218516.4:c.619T>C (GLA) MANE Select	ENSP00000218516.4:p.Tyr207His
ENST00000466414.2:n.538T>C (GLA)
ENST00000468823.2:n.1554T>C (GLA)
ENST00000479445.2:n.1016T>C (GLA)
ENST00000480513.6:c.547+946T>C (GLA)	ENSP00000497055.1:n.547+946T>C
ENST00000486121.6:c.664T>C (GLA)
ENST00000649178.1:c.742T>C (GLA)	ENSP00000498186.1:p.Tyr248His
ENST00000674127.1:c.662T>C (GLA)	ENSP00000501044.1:n.662T>C
ENST00000674142.1:n.706T>C (GLA)
ENST00000674634.2:c.619T>C (GLA)	ENSP00000502629.2:p.Tyr207His
ENST00000675592.1:c.619T>C (GLA)	ENSP00000502239.1:p.Tyr207His
ENST00000675799.1:c.547+946T>C (GLA)	ENSP00000502661.1:n.547+946T>C
ENST00000675968.1:n.1554T>C (GLA)
ENST00000676156.1:c.583T>C (GLA)	ENSP00000501730.1:p.Tyr195His
ENST00000676372.1:c.619T>C (GLA)	ENSP00000502805.1:p.Tyr207His
ENST00000218516.3:c.619T>C (GLA)	ENSP00000218516.3:p.Tyr207His
ENST00000409170.3:c.300+5229A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5229A>G
ENST00000409338.5:c.177+8864A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8864A>G
ENST00000468823.1:n.168T>C (GLA)
ENST00000480513.5:n.477+946T>C (GLA)
ENST00000486121.5:n.664T>C (GLA)
ENST00000493905.6:c.619T>C (GLA)	ENSP00000476935.1:p.Tyr207His
NM_000169.2:c.619T>C , LRG_672t1:c.619T>C (GLA)	NP_000160.1:p.Tyr207His
NM_001199973.1:c.408+5229A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5229A>G
NM_001199974.1:c.285+8864A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8864A>G
XR_938397.1:n.647T>C (GLA)
XR_938397.2:n.668T>C (GLA)
NM_001199973.2:c.300+5229A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5229A>G
NM_001199974.2:c.177+8864A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8864A>G
NM_000169.3:c.619T>C (GLA) MANE Select	NP_000160.1:p.Tyr207His
NR_164783.1:n.641T>C (GLA)