Canonical Allele Identifier: CA517736829

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2780557
• ClinVar RCV Id: RCV003621782
• gnomAD v4: X-101398529-T-C
• MyVariant Identifiers: chrX:g.100653517T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398529T>C , CM000685.2:g.101398529T>C	GRCh38
NC_000023.10:g.100653517T>C , CM000685.1:g.100653517T>C	GRCh37
NC_000023.9:g.100540173T>C	NCBI36
NG_007119.1:g.14435A>G , LRG_672:g.14435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*286A>G (GLA)	ENSP00000501124.2:n.*286A>G
ENST00000674127.2:c.*343A>G (GLA)	ENSP00000501044.2:n.*343A>G
ENST00000710365.1:c.915A>G (GLA)	ENSP00000518234.1:p.Gln305=
ENST00000218516.4:c.840A>G (GLA) MANE Select	ENSP00000218516.4:p.Gln280=
ENST00000466414.2:n.976A>G (GLA)
ENST00000468823.2:n.1992A>G (GLA)
ENST00000479445.2:n.1454A>G (GLA)
ENST00000480513.6:c.*148A>G (GLA)	ENSP00000497055.1:n.*148A>G
ENST00000486121.6:c.885A>G (GLA)
ENST00000649178.1:c.963A>G (GLA)	ENSP00000498186.1:p.Gln321=
ENST00000674127.1:c.940A>G (GLA)	ENSP00000501044.1:n.940A>G
ENST00000674142.1:n.1144A>G (GLA)
ENST00000674634.2:c.840A>G (GLA)	ENSP00000502629.2:p.Gln280=
ENST00000675592.1:c.801+256A>G (GLA)	ENSP00000502239.1:n.801+256A>G
ENST00000675799.1:c.*365A>G (GLA)	ENSP00000502661.1:n.*365A>G
ENST00000675968.1:n.3711A>G (GLA)
ENST00000676156.1:c.804A>G (GLA)	ENSP00000501730.1:p.Gln268=
ENST00000676372.1:c.906A>G (GLA)	ENSP00000502805.1:n.906A>G
ENST00000218516.3:c.840A>G (GLA)	ENSP00000218516.3:p.Gln280=
ENST00000409170.3:c.300+3072T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3072T>C
ENST00000409338.5:c.177+6707T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6707T>C
ENST00000466414.1:n.166A>G (GLA)
ENST00000468823.1:n.606A>G (GLA)
ENST00000493905.6:c.*228A>G (GLA)	ENSP00000476935.1:n.*228A>G
NM_000169.2:c.840A>G , LRG_672t1:c.840A>G (GLA)	NP_000160.1:p.Gln280=
NM_001199973.1:c.408+3072T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3072T>C
NM_001199974.1:c.285+6707T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6707T>C
XR_938397.1:n.925A>G (GLA)
XR_938397.2:n.946A>G (GLA)
NM_001199973.2:c.300+3072T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3072T>C
NM_001199974.2:c.177+6707T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6707T>C
NM_000169.3:c.840A>G (GLA) MANE Select	NP_000160.1:p.Gln280=
NR_164783.1:n.919A>G (GLA)