Canonical Allele Identifier: CA022184

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92570
• ClinVar RCV Id: RCV000157879 ; RCV000781418
• dbSNP Id: rs398123224
• MyVariant Identifiers: chrX:g.100653456G>A (hg19) ; chrX:g.101398468G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398468G>A , CM000685.2:g.101398468G>A	GRCh38
NC_000023.10:g.100653456G>A , CM000685.1:g.100653456G>A	GRCh37
NC_000023.9:g.100540112G>A	NCBI36
NG_007119.1:g.14496C>T , LRG_672:g.14496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*347C>T (GLA)	ENSP00000501124.2:n.*347C>T
ENST00000674127.2:c.*404C>T (GLA)	ENSP00000501044.2:n.*404C>T
ENST00000710365.1:c.976C>T (GLA)	ENSP00000518234.1:p.Arg326Ter
ENST00000218516.4:c.901C>T (GLA) MANE Select	ENSP00000218516.4:p.Arg301Ter
ENST00000466414.2:n.1037C>T (GLA)
ENST00000468823.2:n.2053C>T (GLA)
ENST00000479445.2:n.1515C>T (GLA)
ENST00000480513.6:c.*209C>T (GLA)	ENSP00000497055.1:n.*209C>T
ENST00000486121.6:c.946C>T (GLA)
ENST00000649178.1:c.1024C>T (GLA)	ENSP00000498186.1:p.Arg342Ter
ENST00000674127.1:c.1001C>T (GLA)	ENSP00000501044.1:n.1001C>T
ENST00000674142.1:n.1205C>T (GLA)
ENST00000674634.2:c.901C>T (GLA)	ENSP00000502629.2:p.Arg301Ter
ENST00000675592.1:c.801+317C>T (GLA)	ENSP00000502239.1:n.801+317C>T
ENST00000675799.1:c.*426C>T (GLA)	ENSP00000502661.1:n.*426C>T
ENST00000675968.1:n.3772C>T (GLA)
ENST00000676156.1:c.865C>T (GLA)	ENSP00000501730.1:p.Arg289Ter
ENST00000676372.1:c.967C>T (GLA)	ENSP00000502805.1:n.967C>T
ENST00000218516.3:c.901C>T (GLA)	ENSP00000218516.3:p.Arg301Ter
ENST00000409170.3:c.300+3011G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3011G>A
ENST00000409338.5:c.177+6646G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6646G>A
ENST00000466414.1:n.227C>T (GLA)
ENST00000493905.6:c.*289C>T (GLA)	ENSP00000476935.1:n.*289C>T
NM_000169.2:c.901C>T , LRG_672t1:c.901C>T (GLA)	NP_000160.1:p.Arg301Ter
NM_001199973.1:c.408+3011G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3011G>A
NM_001199974.1:c.285+6646G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6646G>A
XR_938397.1:n.986C>T (GLA)
XR_938397.2:n.1007C>T (GLA)
NM_001199973.2:c.300+3011G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3011G>A
NM_001199974.2:c.177+6646G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6646G>A
NM_000169.3:c.901C>T (GLA) MANE Select	NP_000160.1:p.Arg301Ter
NR_164783.1:n.980C>T (GLA)