Canonical Allele Identifier: CA413919170

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 495691
• ClinVar RCV Id: RCV000586514
• dbSNP Id: rs878853698
• MyVariant Identifiers: chrX:g.100652862G>C (hg19) ; chrX:g.101397874G>C (hg38)
• PubMed: PMID:11668641 ; PMID:12175777 ; PMID:18387337 ; PMID:21598360

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397874G>C , CM000685.2:g.101397874G>C	GRCh38
NC_000023.10:g.100652862G>C , CM000685.1:g.100652862G>C	GRCh37
NC_000023.9:g.100539518G>C	NCBI36
NG_007119.1:g.15090C>G , LRG_672:g.15090C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000674127.2:c.*728C>G (GLA)	ENSP00000501044.2:n.*728C>G
ENST00000710365.1:c.1300C>G (GLA)	ENSP00000518234.1:p.Pro434Ala
ENST00000218516.4:c.1225C>G (GLA) MANE Select	ENSP00000218516.4:p.Pro409Ala
ENST00000466414.2:n.1361C>G (GLA)
ENST00000468823.2:n.2647C>G (GLA)
ENST00000479445.2:n.1839C>G (GLA)
ENST00000649178.1:c.1348C>G (GLA)	ENSP00000498186.1:p.Pro450Ala
ENST00000674127.1:c.1325C>G (GLA)	ENSP00000501044.1:n.1325C>G
ENST00000674142.1:n.1421+108C>G (GLA)
ENST00000675592.1:c.1027C>G (GLA)	ENSP00000502239.1:p.Pro343Ala
ENST00000675799.1:c.*750C>G (GLA)	ENSP00000502661.1:n.*750C>G
ENST00000675968.1:n.4096C>G (GLA)
ENST00000676156.1:c.1189C>G (GLA)	ENSP00000501730.1:p.Pro397Ala
ENST00000676372.1:c.1291C>G (GLA)	ENSP00000502805.1:n.1291C>G
ENST00000218516.3:c.1225C>G (GLA)	ENSP00000218516.3:p.Pro409Ala
ENST00000409170.3:c.300+2417G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2417G>C
ENST00000409338.5:c.177+6052G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6052G>C
ENST00000466414.1:n.551C>G (GLA)
ENST00000493905.6:c.*613C>G (GLA)	ENSP00000476935.1:n.*613C>G
NM_000169.2:c.1225C>G , LRG_672t1:c.1225C>G (GLA)	NP_000160.1:p.Pro409Ala
NM_001199973.1:c.408+2417G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2417G>C
NM_001199974.1:c.285+6052G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6052G>C
XR_938397.1:n.1310C>G (GLA)
XR_938397.2:n.1331C>G (GLA)
NM_001199973.2:c.300+2417G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2417G>C
NM_001199974.2:c.177+6052G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6052G>C
NM_000169.3:c.1225C>G (GLA) MANE Select	NP_000160.1:p.Pro409Ala
NR_164783.1:n.1304C>G (GLA)