Canonical Allele Identifier: CA413929648

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 453317
• ClinVar RCV Id: RCV000542303 ; RCV000727447
• dbSNP Id: rs1555985827
• MyVariant Identifiers: chrX:g.100656711G>T (hg19) ; chrX:g.101401723G>T (hg38)
• PubMed: PMID:12175777 ; PMID:24582695

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401723G>T , CM000685.2:g.101401723G>T	GRCh38
NC_000023.10:g.100656711G>T , CM000685.1:g.100656711G>T	GRCh37
NC_000023.9:g.100543367G>T	NCBI36
NG_007119.1:g.11241C>A , LRG_672:g.11241C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.456C>A (GLA)	ENSP00000501124.2:p.Tyr152Ter
ENST00000674127.2:c.456C>A (GLA)	ENSP00000501044.2:p.Tyr152Ter
ENST00000710365.1:c.531C>A (GLA)	ENSP00000518234.1:p.Tyr177Ter
ENST00000218516.4:c.456C>A (GLA) MANE Select	ENSP00000218516.4:p.Tyr152Ter
ENST00000466414.2:n.375C>A (GLA)
ENST00000468823.2:n.517C>A (GLA)
ENST00000479445.2:n.454C>A (GLA)
ENST00000480513.6:c.456C>A (GLA)	ENSP00000497055.1:p.Tyr152Ter
ENST00000486121.6:c.386C>A (GLA)
ENST00000649178.1:c.579C>A (GLA)	ENSP00000498186.1:p.Tyr193Ter
ENST00000674127.1:c.384C>A (GLA)	ENSP00000501044.1:p.Tyr128Ter
ENST00000674142.1:n.543C>A (GLA)
ENST00000674634.2:c.456C>A (GLA)	ENSP00000502629.2:p.Tyr152Ter
ENST00000675592.1:c.456C>A (GLA)	ENSP00000502239.1:p.Tyr152Ter
ENST00000675799.1:c.456C>A (GLA)	ENSP00000502661.1:p.Tyr152Ter
ENST00000675968.1:n.517C>A (GLA)
ENST00000676156.1:c.456C>A (GLA)	ENSP00000501730.1:p.Tyr152Ter
ENST00000676372.1:c.456C>A (GLA)	ENSP00000502805.1:p.Tyr152Ter
ENST00000218516.3:c.456C>A (GLA)	ENSP00000218516.3:p.Tyr152Ter
ENST00000409170.3:c.300+6266G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6266G>T
ENST00000409338.5:c.177+9901G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9901G>T
ENST00000479445.1:n.440C>A (GLA)
ENST00000480513.5:n.386C>A (GLA)
ENST00000486121.5:n.386C>A (GLA)
ENST00000493905.6:c.456C>A (GLA)	ENSP00000476935.1:p.Tyr152Ter
NM_000169.2:c.456C>A , LRG_672t1:c.456C>A (GLA)	NP_000160.1:p.Tyr152Ter
NM_001199973.1:c.408+6266G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6266G>T
NM_001199974.1:c.285+9901G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9901G>T
XR_938397.1:n.484C>A (GLA)
XR_938397.2:n.505C>A (GLA)
NM_001199973.2:c.300+6266G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6266G>T
NM_001199974.2:c.177+9901G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9901G>T
NM_000169.3:c.456C>A (GLA) MANE Select	NP_000160.1:p.Tyr152Ter
NR_164783.1:n.478C>A (GLA)