Canonical Allele Identifier: CA352389

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222393
• ClinVar RCV Id: RCV000589425 ; RCV003137795
• dbSNP Id: rs190347120
• MyVariant Identifiers: chrX:g.100653784C>A (hg19) ; chrX:g.101398796C>A (hg38)
• PubMed: PMID:15712228 ; PMID:16595074 ; PMID:16773563 ; PMID:23935525 ; PMID:24582695 ; PMID:26333625

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398796C>A , CM000685.2:g.101398796C>A	GRCh38
NC_000023.10:g.100653784C>A , CM000685.1:g.100653784C>A	GRCh37
NC_000023.9:g.100540440C>A	NCBI36
NG_007119.1:g.14168G>T , LRG_672:g.14168G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*236G>T (GLA)	ENSP00000501124.2:n.*236G>T
ENST00000674127.2:c.*293G>T (GLA)	ENSP00000501044.2:n.*293G>T
ENST00000710365.1:c.865G>T (GLA)	ENSP00000518234.1:p.Asp289Tyr
ENST00000218516.4:c.790G>T (GLA) MANE Select	ENSP00000218516.4:p.Asp264Tyr
ENST00000466414.2:n.709G>T (GLA)
ENST00000468823.2:n.1725G>T (GLA)
ENST00000479445.2:n.1187G>T (GLA)
ENST00000480513.6:c.*98G>T (GLA)	ENSP00000497055.1:n.*98G>T
ENST00000486121.6:c.835G>T (GLA)
ENST00000649178.1:c.913G>T (GLA)	ENSP00000498186.1:p.Asp305Tyr
ENST00000674127.1:c.890G>T (GLA)	ENSP00000501044.1:n.890G>T
ENST00000674142.1:n.877G>T (GLA)
ENST00000674634.2:c.790G>T (GLA)	ENSP00000502629.2:p.Asp264Tyr
ENST00000675592.1:c.790G>T (GLA)	ENSP00000502239.1:p.Asp264Tyr
ENST00000675799.1:c.*98G>T (GLA)	ENSP00000502661.1:n.*98G>T
ENST00000675968.1:n.3444G>T (GLA)
ENST00000676156.1:c.754G>T (GLA)	ENSP00000501730.1:p.Asp252Tyr
ENST00000676372.1:c.790G>T (GLA)	ENSP00000502805.1:p.Asp264Tyr
ENST00000218516.3:c.790G>T (GLA)	ENSP00000218516.3:p.Asp264Tyr
ENST00000409170.3:c.300+3339C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3339C>A
ENST00000409338.5:c.177+6974C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6974C>A
ENST00000468823.1:n.339G>T (GLA)
ENST00000493905.6:c.*178G>T (GLA)	ENSP00000476935.1:n.*178G>T
NM_000169.2:c.790G>T , LRG_672t1:c.790G>T (GLA)	NP_000160.1:p.Asp264Tyr
NM_001199973.1:c.408+3339C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3339C>A
NM_001199974.1:c.285+6974C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6974C>A
XR_938397.1:n.875G>T (GLA)
XR_938397.2:n.896G>T (GLA)
NM_001199973.2:c.300+3339C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3339C>A
NM_001199974.2:c.177+6974C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6974C>A
NM_000169.3:c.790G>T (GLA) MANE Select	NP_000160.1:p.Asp264Tyr
NR_164783.1:n.869G>T (GLA)