Canonical Allele Identifier: CA353134

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217393
• ClinVar RCV Id: RCV000209507 ; RCV000209122
• dbSNP Id: rs869312151
• MyVariant Identifiers: chrX:g.100653917G>C (hg19) ; chrX:g.101398929G>C (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398929G>C , CM000685.2:g.101398929G>C	GRCh38
NC_000023.10:g.100653917G>C , CM000685.1:g.100653917G>C	GRCh37
NC_000023.9:g.100540573G>C	NCBI36
NG_007119.1:g.14035C>G , LRG_672:g.14035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*103C>G (GLA)	ENSP00000501124.2:n.*103C>G
ENST00000674127.2:c.*160C>G (GLA)	ENSP00000501044.2:n.*160C>G
ENST00000710365.1:c.732C>G (GLA)	ENSP00000518234.1:p.Ile244Met
ENST00000218516.4:c.657C>G (GLA) MANE Select	ENSP00000218516.4:p.Ile219Met
ENST00000466414.2:n.576C>G (GLA)
ENST00000468823.2:n.1592C>G (GLA)
ENST00000479445.2:n.1054C>G (GLA)
ENST00000480513.6:c.565C>G (GLA)	ENSP00000497055.1:p.Pro189Ala
ENST00000486121.6:c.702C>G (GLA)
ENST00000649178.1:c.780C>G (GLA)	ENSP00000498186.1:p.Ile260Met
ENST00000674127.1:c.757C>G (GLA)	ENSP00000501044.1:n.757C>G
ENST00000674142.1:n.744C>G (GLA)
ENST00000674634.2:c.657C>G (GLA)	ENSP00000502629.2:p.Ile219Met
ENST00000675592.1:c.657C>G (GLA)	ENSP00000502239.1:p.Ile219Met
ENST00000675799.1:c.565C>G (GLA)	ENSP00000502661.1:p.Pro189Ala
ENST00000675968.1:n.3311C>G (GLA)
ENST00000676156.1:c.621C>G (GLA)	ENSP00000501730.1:p.Ile207Met
ENST00000676372.1:c.657C>G (GLA)	ENSP00000502805.1:p.Ile219Met
ENST00000218516.3:c.657C>G (GLA)	ENSP00000218516.3:p.Ile219Met
ENST00000409170.3:c.300+3472G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3472G>C
ENST00000409338.5:c.177+7107G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7107G>C
ENST00000468823.1:n.206C>G (GLA)
ENST00000480513.5:n.495C>G (GLA)
ENST00000486121.5:n.702C>G (GLA)
ENST00000493905.6:c.*45C>G (GLA)	ENSP00000476935.1:n.*45C>G
NM_000169.2:c.657C>G , LRG_672t1:c.657C>G (GLA)	NP_000160.1:p.Ile219Met
NM_001199973.1:c.408+3472G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3472G>C
NM_001199974.1:c.285+7107G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7107G>C
XR_938397.1:n.742C>G (GLA)
XR_938397.2:n.763C>G (GLA)
NM_001199973.2:c.300+3472G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3472G>C
NM_001199974.2:c.177+7107G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7107G>C
NM_000169.3:c.657C>G (GLA) MANE Select	NP_000160.1:p.Ile219Met
NR_164783.1:n.736C>G (GLA)