Canonical Allele Identifier: CA089014

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217394
• ClinVar RCV Id: RCV000208950 ; RCV000209334
• dbSNP Id: rs104894840
• MyVariant Identifiers: chrX:g.100653894C>G (hg19) ; chrX:g.101398906C>G (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398906C>G , CM000685.2:g.101398906C>G	GRCh38
NC_000023.10:g.100653894C>G , CM000685.1:g.100653894C>G	GRCh37
NC_000023.9:g.100540550C>G	NCBI36
NG_007119.1:g.14058G>C , LRG_672:g.14058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*126G>C (GLA)	ENSP00000501124.2:n.*126G>C
ENST00000674127.2:c.*183G>C (GLA)	ENSP00000501044.2:n.*183G>C
ENST00000710365.1:c.755G>C (GLA)	ENSP00000518234.1:p.Arg252Pro
ENST00000218516.4:c.680G>C (GLA) MANE Select	ENSP00000218516.4:p.Arg227Pro
ENST00000466414.2:n.599G>C (GLA)
ENST00000468823.2:n.1615G>C (GLA)
ENST00000479445.2:n.1077G>C (GLA)
ENST00000480513.6:c.588G>C (GLA)	ENSP00000497055.1:p.Ala196=
ENST00000486121.6:c.725G>C (GLA)
ENST00000649178.1:c.803G>C (GLA)	ENSP00000498186.1:p.Arg268Pro
ENST00000674127.1:c.780G>C (GLA)	ENSP00000501044.1:n.780G>C
ENST00000674142.1:n.767G>C (GLA)
ENST00000674634.2:c.680G>C (GLA)	ENSP00000502629.2:p.Arg227Pro
ENST00000675592.1:c.680G>C (GLA)	ENSP00000502239.1:p.Arg227Pro
ENST00000675799.1:c.588G>C (GLA)	ENSP00000502661.1:p.Ala196=
ENST00000675968.1:n.3334G>C (GLA)
ENST00000676156.1:c.644G>C (GLA)	ENSP00000501730.1:p.Arg215Pro
ENST00000676372.1:c.680G>C (GLA)	ENSP00000502805.1:p.Arg227Pro
ENST00000218516.3:c.680G>C (GLA)	ENSP00000218516.3:p.Arg227Pro
ENST00000409170.3:c.300+3449C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3449C>G
ENST00000409338.5:c.177+7084C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7084C>G
ENST00000468823.1:n.229G>C (GLA)
ENST00000480513.5:n.518G>C (GLA)
ENST00000493905.6:c.*68G>C (GLA)	ENSP00000476935.1:n.*68G>C
NM_000169.2:c.680G>C , LRG_672t1:c.680G>C (GLA)	NP_000160.1:p.Arg227Pro
NM_001199973.1:c.408+3449C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3449C>G
NM_001199974.1:c.285+7084C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7084C>G
XR_938397.1:n.765G>C (GLA)
XR_938397.2:n.786G>C (GLA)
NM_001199973.2:c.300+3449C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3449C>G
NM_001199974.2:c.177+7084C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7084C>G
NM_000169.3:c.680G>C (GLA) MANE Select	NP_000160.1:p.Arg227Pro
NR_164783.1:n.759G>C (GLA)