Canonical Allele Identifier: CA089038

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217399
• ClinVar RCV Id: RCV000209091 ; RCV000209357
• dbSNP Id: rs28935488
• MyVariant Identifiers: chrX:g.100653551A>C (hg19) ; chrX:g.101398563A>C (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398563A>C , CM000685.2:g.101398563A>C	GRCh38
NC_000023.10:g.100653551A>C , CM000685.1:g.100653551A>C	GRCh37
NC_000023.9:g.100540207A>C	NCBI36
NG_007119.1:g.14401T>G , LRG_672:g.14401T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*252T>G (GLA)	ENSP00000501124.2:n.*252T>G
ENST00000674127.2:c.*309T>G (GLA)	ENSP00000501044.2:n.*309T>G
ENST00000710365.1:c.881T>G (GLA)	ENSP00000518234.1:p.Val294Gly
ENST00000218516.4:c.806T>G (GLA) MANE Select	ENSP00000218516.4:p.Val269Gly
ENST00000466414.2:n.942T>G (GLA)
ENST00000468823.2:n.1958T>G (GLA)
ENST00000479445.2:n.1420T>G (GLA)
ENST00000480513.6:c.*114T>G (GLA)	ENSP00000497055.1:n.*114T>G
ENST00000486121.6:c.851T>G (GLA)
ENST00000649178.1:c.929T>G (GLA)	ENSP00000498186.1:p.Val310Gly
ENST00000674127.1:c.906T>G (GLA)	ENSP00000501044.1:n.906T>G
ENST00000674142.1:n.1110T>G (GLA)
ENST00000674634.2:c.806T>G (GLA)	ENSP00000502629.2:p.Val269Gly
ENST00000675592.1:c.801+222T>G (GLA)	ENSP00000502239.1:n.801+222T>G
ENST00000675799.1:c.*331T>G (GLA)	ENSP00000502661.1:n.*331T>G
ENST00000675968.1:n.3677T>G (GLA)
ENST00000676156.1:c.770T>G (GLA)	ENSP00000501730.1:p.Val257Gly
ENST00000676372.1:c.872T>G (GLA)	ENSP00000502805.1:n.872T>G
ENST00000218516.3:c.806T>G (GLA)	ENSP00000218516.3:p.Val269Gly
ENST00000409170.3:c.300+3106A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3106A>C
ENST00000409338.5:c.177+6741A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6741A>C
ENST00000466414.1:n.132T>G (GLA)
ENST00000468823.1:n.572T>G (GLA)
ENST00000493905.6:c.*194T>G (GLA)	ENSP00000476935.1:n.*194T>G
NM_000169.2:c.806T>G , LRG_672t1:c.806T>G (GLA)	NP_000160.1:p.Val269Gly
NM_001199973.1:c.408+3106A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3106A>C
NM_001199974.1:c.285+6741A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6741A>C
XR_938397.1:n.891T>G (GLA)
XR_938397.2:n.912T>G (GLA)
NM_001199973.2:c.300+3106A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3106A>C
NM_001199974.2:c.177+6741A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6741A>C
NM_000169.3:c.806T>G (GLA) MANE Select	NP_000160.1:p.Val269Gly
NR_164783.1:n.885T>G (GLA)