Canonical Allele Identifier: CA517522990

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1332260
• ClinVar RCV Id: RCV001805306
• dbSNP Id: rs2147477873
• gnomAD v4: X-101401804-G-A
• MyVariant Identifiers: chrX:g.100656792G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401804G>A , CM000685.2:g.101401804G>A	GRCh38
NC_000023.10:g.100656792G>A , CM000685.1:g.100656792G>A	GRCh37
NC_000023.9:g.100543448G>A	NCBI36
NG_007119.1:g.11160C>T , LRG_672:g.11160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.375C>T (GLA)	ENSP00000501124.2:p.His125=
ENST00000674127.2:c.375C>T (GLA)	ENSP00000501044.2:p.His125=
ENST00000710365.1:c.450C>T (GLA)	ENSP00000518234.1:p.His150=
ENST00000218516.4:c.375C>T (GLA) MANE Select	ENSP00000218516.4:p.His125=
ENST00000466414.2:n.294C>T (GLA)
ENST00000468823.2:n.436C>T (GLA)
ENST00000479445.2:n.373C>T (GLA)
ENST00000480513.6:c.375C>T (GLA)	ENSP00000497055.1:p.His125=
ENST00000486121.6:c.305C>T (GLA)
ENST00000649178.1:c.498C>T (GLA)	ENSP00000498186.1:p.His166=
ENST00000674127.1:c.303C>T (GLA)	ENSP00000501044.1:p.His101=
ENST00000674142.1:n.462C>T (GLA)
ENST00000674634.2:c.375C>T (GLA)	ENSP00000502629.2:p.His125=
ENST00000675592.1:c.375C>T (GLA)	ENSP00000502239.1:p.His125=
ENST00000675799.1:c.375C>T (GLA)	ENSP00000502661.1:p.His125=
ENST00000675968.1:n.436C>T (GLA)
ENST00000676156.1:c.375C>T (GLA)	ENSP00000501730.1:p.His125=
ENST00000676372.1:c.375C>T (GLA)	ENSP00000502805.1:p.His125=
ENST00000218516.3:c.375C>T (GLA)	ENSP00000218516.3:p.His125=
ENST00000409170.3:c.300+6347G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6347G>A
ENST00000409338.5:c.177+9982G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9982G>A
ENST00000479445.1:n.359C>T (GLA)
ENST00000480513.5:n.305C>T (GLA)
ENST00000486121.5:n.305C>T (GLA)
ENST00000493905.6:c.375C>T (GLA)	ENSP00000476935.1:p.His125=
NM_000169.2:c.375C>T , LRG_672t1:c.375C>T (GLA)	NP_000160.1:p.His125=
NM_001199973.1:c.408+6347G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6347G>A
NM_001199974.1:c.285+9982G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9982G>A
XR_938397.1:n.403C>T (GLA)
XR_938397.2:n.424C>T (GLA)
NM_001199973.2:c.300+6347G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6347G>A
NM_001199974.2:c.177+9982G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9982G>A
NM_000169.3:c.375C>T (GLA) MANE Select	NP_000160.1:p.His125=
NR_164783.1:n.397C>T (GLA)