Canonical Allele Identifier: CA353272

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217408
• ClinVar RCV Id: RCV000209419 ; RCV000209806
• dbSNP Id: rs869312160
• MyVariant Identifiers: chrX:g.100653377T>A (hg19) ; chrX:g.101398389T>A (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398389T>A , CM000685.2:g.101398389T>A	GRCh38
NC_000023.10:g.100653377T>A , CM000685.1:g.100653377T>A	GRCh37
NC_000023.9:g.100540033T>A	NCBI36
NG_007119.1:g.14575A>T , LRG_672:g.14575A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*426A>T (GLA)	ENSP00000501124.2:n.*426A>T
ENST00000674127.2:c.*483A>T (GLA)	ENSP00000501044.2:n.*483A>T
ENST00000710365.1:c.1055A>T (GLA)	ENSP00000518234.1:p.Gln352Leu
ENST00000218516.4:c.980A>T (GLA) MANE Select	ENSP00000218516.4:p.Gln327Leu
ENST00000466414.2:n.1116A>T (GLA)
ENST00000468823.2:n.2132A>T (GLA)
ENST00000479445.2:n.1594A>T (GLA)
ENST00000480513.6:c.*288A>T (GLA)	ENSP00000497055.1:n.*288A>T
ENST00000486121.6:c.1025A>T (GLA)
ENST00000649178.1:c.1103A>T (GLA)	ENSP00000498186.1:p.Gln368Leu
ENST00000674127.1:c.1080A>T (GLA)	ENSP00000501044.1:n.1080A>T
ENST00000674142.1:n.1284A>T (GLA)
ENST00000674634.2:c.980A>T (GLA)	ENSP00000502629.2:p.Gln327Leu
ENST00000675592.1:c.802-290A>T (GLA)	ENSP00000502239.1:n.802-290A>T
ENST00000675799.1:c.*505A>T (GLA)	ENSP00000502661.1:n.*505A>T
ENST00000675968.1:n.3851A>T (GLA)
ENST00000676156.1:c.944A>T (GLA)	ENSP00000501730.1:p.Gln315Leu
ENST00000676372.1:c.1046A>T (GLA)	ENSP00000502805.1:n.1046A>T
ENST00000218516.3:c.980A>T (GLA)	ENSP00000218516.3:p.Gln327Leu
ENST00000409170.3:c.300+2932T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2932T>A
ENST00000409338.5:c.177+6567T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6567T>A
ENST00000466414.1:n.306A>T (GLA)
ENST00000493905.6:c.*368A>T (GLA)	ENSP00000476935.1:n.*368A>T
NM_000169.2:c.980A>T , LRG_672t1:c.980A>T (GLA)	NP_000160.1:p.Gln327Leu
NM_001199973.1:c.408+2932T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2932T>A
NM_001199974.1:c.285+6567T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6567T>A
XR_938397.1:n.1065A>T (GLA)
XR_938397.2:n.1086A>T (GLA)
NM_001199973.2:c.300+2932T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2932T>A
NM_001199974.2:c.177+6567T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6567T>A
NM_000169.3:c.980A>T (GLA) MANE Select	NP_000160.1:p.Gln327Leu
NR_164783.1:n.1059A>T (GLA)