Canonical Allele Identifier: CA021972

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10732
• ClinVar RCV Id: RCV000011478 ; RCV000157898
• dbSNP Id: rs104894840
• MyVariant Identifiers: chrX:g.100653894C>T (hg19) ; chrX:g.101398906C>T (hg38)
• PubMed: PMID:7504405 ; PMID:12920095 ; PMID:20615758 ; PMID:23891399 ; PMID:23935525 ; PMID:27657681

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*126G>A (GLA)	ENSP00000501124.2:n.*126G>A
ENST00000674127.2:c.*183G>A (GLA)	ENSP00000501044.2:n.*183G>A
ENST00000710365.1:c.755G>A (GLA)	ENSP00000518234.1:p.Arg252Gln
ENST00000218516.4:c.680G>A (GLA) MANE Select	ENSP00000218516.4:p.Arg227Gln
ENST00000466414.2:n.599G>A (GLA)
ENST00000468823.2:n.1615G>A (GLA)
ENST00000479445.2:n.1077G>A (GLA)
ENST00000480513.6:c.588G>A (GLA)	ENSP00000497055.1:p.Ala196=
ENST00000486121.6:c.725G>A (GLA)
ENST00000649178.1:c.803G>A (GLA)	ENSP00000498186.1:p.Arg268Gln
ENST00000674127.1:c.780G>A (GLA)	ENSP00000501044.1:n.780G>A
ENST00000674142.1:n.767G>A (GLA)
ENST00000674634.2:c.680G>A (GLA)	ENSP00000502629.2:p.Arg227Gln
ENST00000675592.1:c.680G>A (GLA)	ENSP00000502239.1:p.Arg227Gln
ENST00000675799.1:c.588G>A (GLA)	ENSP00000502661.1:p.Ala196=
ENST00000675968.1:n.3334G>A (GLA)
ENST00000676156.1:c.644G>A (GLA)	ENSP00000501730.1:p.Arg215Gln
ENST00000676372.1:c.680G>A (GLA)	ENSP00000502805.1:p.Arg227Gln
ENST00000218516.3:c.680G>A (GLA)	ENSP00000218516.3:p.Arg227Gln
ENST00000409170.3:c.300+3449C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3449C>T
ENST00000409338.5:c.177+7084C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7084C>T
ENST00000468823.1:n.229G>A (GLA)
ENST00000480513.5:n.518G>A (GLA)
ENST00000493905.6:c.*68G>A (GLA)	ENSP00000476935.1:n.*68G>A
NM_000169.2:c.680G>A , LRG_672t1:c.680G>A (GLA)	NP_000160.1:p.Arg227Gln
NM_001199973.1:c.408+3449C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3449C>T
NM_001199974.1:c.285+7084C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7084C>T
XR_938397.1:n.765G>A (GLA)
XR_938397.2:n.786G>A (GLA)
NM_001199973.2:c.300+3449C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3449C>T
NM_001199974.2:c.177+7084C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7084C>T
NM_000169.3:c.680G>A (GLA) MANE Select	NP_000160.1:p.Arg227Gln
NR_164783.1:n.759G>A (GLA)