Canonical Allele Identifier: CA021821

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10729
• ClinVar RCV Id: RCV000011476
• dbSNP Id: rs104894838
• MyVariant Identifiers: chrX:g.100655687A>C (hg19) ; chrX:g.101400699A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400699A>C , CM000685.2:g.101400699A>C	GRCh38
NC_000023.10:g.100655687A>C , CM000685.1:g.100655687A>C	GRCh37
NC_000023.9:g.100542343A>C	NCBI36
NG_007119.1:g.12265T>G , LRG_672:g.12265T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*52T>G (GLA)	ENSP00000501124.2:n.*52T>G
ENST00000674127.2:c.*52T>G (GLA)	ENSP00000501044.2:n.*52T>G
ENST00000710365.1:c.681T>G (GLA)	ENSP00000518234.1:p.Cys227Trp
ENST00000218516.4:c.606T>G (GLA) MANE Select	ENSP00000218516.4:p.Cys202Trp
ENST00000466414.2:n.525T>G (GLA)
ENST00000468823.2:n.1541T>G (GLA)
ENST00000479445.2:n.1003T>G (GLA)
ENST00000480513.6:c.547+933T>G (GLA)	ENSP00000497055.1:n.547+933T>G
ENST00000486121.6:c.651T>G (GLA)
ENST00000649178.1:c.729T>G (GLA)	ENSP00000498186.1:p.Cys243Trp
ENST00000674127.1:c.649T>G (GLA)	ENSP00000501044.1:n.649T>G
ENST00000674142.1:n.693T>G (GLA)
ENST00000674634.2:c.606T>G (GLA)	ENSP00000502629.2:p.Cys202Trp
ENST00000675592.1:c.606T>G (GLA)	ENSP00000502239.1:p.Cys202Trp
ENST00000675799.1:c.547+933T>G (GLA)	ENSP00000502661.1:n.547+933T>G
ENST00000675968.1:n.1541T>G (GLA)
ENST00000676156.1:c.570T>G (GLA)	ENSP00000501730.1:p.Cys190Trp
ENST00000676372.1:c.606T>G (GLA)	ENSP00000502805.1:p.Cys202Trp
ENST00000218516.3:c.606T>G (GLA)	ENSP00000218516.3:p.Cys202Trp
ENST00000409170.3:c.300+5242A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5242A>C
ENST00000409338.5:c.177+8877A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8877A>C
ENST00000468823.1:n.155T>G (GLA)
ENST00000480513.5:n.477+933T>G (GLA)
ENST00000486121.5:n.651T>G (GLA)
ENST00000493905.6:c.606T>G (GLA)	ENSP00000476935.1:p.Cys202Trp
NM_000169.2:c.606T>G , LRG_672t1:c.606T>G (GLA)	NP_000160.1:p.Cys202Trp
NM_001199973.1:c.408+5242A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5242A>C
NM_001199974.1:c.285+8877A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8877A>C
XR_938397.1:n.634T>G (GLA)
XR_938397.2:n.655T>G (GLA)
NM_001199973.2:c.300+5242A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5242A>C
NM_001199974.2:c.177+8877A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8877A>C
NM_000169.3:c.606T>G (GLA) MANE Select	NP_000160.1:p.Cys202Trp
NR_164783.1:n.628T>G (GLA)