Canonical Allele Identifier: CA413927051

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1377665
• ClinVar RCV Id: RCV001888619
• dbSNP Id: rs869312149
• MyVariant Identifiers: chrX:g.100655655T>G (hg19) ; chrX:g.101400667T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400667T>G , CM000685.2:g.101400667T>G	GRCh38
NC_000023.10:g.100655655T>G , CM000685.1:g.100655655T>G	GRCh37
NC_000023.9:g.100542311T>G	NCBI36
NG_007119.1:g.12297A>C , LRG_672:g.12297A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*84A>C (GLA)	ENSP00000501124.2:n.*84A>C
ENST00000674127.2:c.*84A>C (GLA)	ENSP00000501044.2:n.*84A>C
ENST00000710365.1:c.713A>C (GLA)	ENSP00000518234.1:p.Lys238Thr
ENST00000218516.4:c.638A>C (GLA) MANE Select	ENSP00000218516.4:p.Lys213Thr
ENST00000466414.2:n.557A>C (GLA)
ENST00000468823.2:n.1573A>C (GLA)
ENST00000479445.2:n.1035A>C (GLA)
ENST00000480513.6:c.547+965A>C (GLA)	ENSP00000497055.1:n.547+965A>C
ENST00000486121.6:c.683A>C (GLA)
ENST00000649178.1:c.761A>C (GLA)	ENSP00000498186.1:p.Lys254Thr
ENST00000674127.1:c.681A>C (GLA)	ENSP00000501044.1:n.681A>C
ENST00000674142.1:n.725A>C (GLA)
ENST00000674634.2:c.638A>C (GLA)	ENSP00000502629.2:p.Lys213Thr
ENST00000675592.1:c.638A>C (GLA)	ENSP00000502239.1:p.Lys213Thr
ENST00000675799.1:c.547+965A>C (GLA)	ENSP00000502661.1:n.547+965A>C
ENST00000675968.1:n.1573A>C (GLA)
ENST00000676156.1:c.602A>C (GLA)	ENSP00000501730.1:p.Lys201Thr
ENST00000676372.1:c.638A>C (GLA)	ENSP00000502805.1:p.Lys213Thr
ENST00000218516.3:c.638A>C (GLA)	ENSP00000218516.3:p.Lys213Thr
ENST00000409170.3:c.300+5210T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5210T>G
ENST00000409338.5:c.177+8845T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8845T>G
ENST00000468823.1:n.187A>C (GLA)
ENST00000480513.5:n.477+965A>C (GLA)
ENST00000486121.5:n.683A>C (GLA)
ENST00000493905.6:c.638A>C (GLA)	ENSP00000476935.1:p.Lys213Thr
NM_000169.2:c.638A>C , LRG_672t1:c.638A>C (GLA)	NP_000160.1:p.Lys213Thr
NM_001199973.1:c.408+5210T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5210T>G
NM_001199974.1:c.285+8845T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8845T>G
XR_938397.1:n.666A>C (GLA)
XR_938397.2:n.687A>C (GLA)
NM_001199973.2:c.300+5210T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5210T>G
NM_001199974.2:c.177+8845T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8845T>G
NM_000169.3:c.638A>C (GLA) MANE Select	NP_000160.1:p.Lys213Thr
NR_164783.1:n.660A>C (GLA)