Canonical Allele Identifier: CA021696

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 163546
• ClinVar RCV Id: RCV000150748
• dbSNP Id: rs727503072
• MyVariant Identifiers: chrX:g.100656781A>G (hg19) ; chrX:g.101401793A>G (hg38)
• PubMed: PMID:11804208 ; PMID:15776423

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401793A>G , CM000685.2:g.101401793A>G	GRCh38
NC_000023.10:g.100656781A>G , CM000685.1:g.100656781A>G	GRCh37
NC_000023.9:g.100543437A>G	NCBI36
NG_007119.1:g.11171T>C , LRG_672:g.11171T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.386T>C (GLA)	ENSP00000501124.2:p.Leu129Pro
ENST00000674127.2:c.386T>C (GLA)	ENSP00000501044.2:p.Leu129Pro
ENST00000710365.1:c.461T>C (GLA)	ENSP00000518234.1:p.Leu154Pro
ENST00000218516.4:c.386T>C (GLA) MANE Select	ENSP00000218516.4:p.Leu129Pro
ENST00000466414.2:n.305T>C (GLA)
ENST00000468823.2:n.447T>C (GLA)
ENST00000479445.2:n.384T>C (GLA)
ENST00000480513.6:c.386T>C (GLA)	ENSP00000497055.1:p.Leu129Pro
ENST00000486121.6:c.316T>C (GLA)
ENST00000649178.1:c.509T>C (GLA)	ENSP00000498186.1:p.Leu170Pro
ENST00000674127.1:c.314T>C (GLA)	ENSP00000501044.1:p.Leu105Pro
ENST00000674142.1:n.473T>C (GLA)
ENST00000674634.2:c.386T>C (GLA)	ENSP00000502629.2:p.Leu129Pro
ENST00000675592.1:c.386T>C (GLA)	ENSP00000502239.1:p.Leu129Pro
ENST00000675799.1:c.386T>C (GLA)	ENSP00000502661.1:p.Leu129Pro
ENST00000675968.1:n.447T>C (GLA)
ENST00000676156.1:c.386T>C (GLA)	ENSP00000501730.1:p.Leu129Pro
ENST00000676372.1:c.386T>C (GLA)	ENSP00000502805.1:p.Leu129Pro
ENST00000218516.3:c.386T>C (GLA)	ENSP00000218516.3:p.Leu129Pro
ENST00000409170.3:c.300+6336A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6336A>G
ENST00000409338.5:c.177+9971A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9971A>G
ENST00000479445.1:n.370T>C (GLA)
ENST00000480513.5:n.316T>C (GLA)
ENST00000486121.5:n.316T>C (GLA)
ENST00000493905.6:c.386T>C (GLA)	ENSP00000476935.1:p.Leu129Pro
NM_000169.2:c.386T>C , LRG_672t1:c.386T>C (GLA)	NP_000160.1:p.Leu129Pro
NM_001199973.1:c.408+6336A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6336A>G
NM_001199974.1:c.285+9971A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9971A>G
XR_938397.1:n.414T>C (GLA)
XR_938397.2:n.435T>C (GLA)
NM_001199973.2:c.300+6336A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6336A>G
NM_001199974.2:c.177+9971A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9971A>G
NM_000169.3:c.386T>C (GLA) MANE Select	NP_000160.1:p.Leu129Pro
NR_164783.1:n.408T>C (GLA)