Canonical Allele Identifier: CA021883

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10768
• ClinVar RCV Id: RCV000011515 ; RCV000154318 ; RCV000769537 ; RCV000844706 ; RCV000728949 ; RCV002362578
• dbSNP Id: rs199473684
• gnomAD v2: X-100654735-C-T
• gnomAD v3: X-101399747-C-T
• gnomAD v4: X-101399747-C-T
• MyVariant Identifiers: chrX:g.100654735C>T (hg19) ; chrX:g.101399747C>T (hg38)
• PubMed: PMID:11828341 ; PMID:19621417 ; PMID:19823873 ; PMID:20031620 ; PMID:20301469 ; PMID:20821055 ; PMID:22437327 ; PMID:23109060 ; PMID:28377241 ; PMID:28430823

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101399747C>T , CM000685.2:g.101399747C>T	GRCh38
NC_000023.10:g.100654735C>T , CM000685.1:g.100654735C>T	GRCh37
NC_000023.9:g.100541391C>T	NCBI36
NG_007119.1:g.13217G>A , LRG_672:g.13217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-801G>A (GLA)	ENSP00000501124.2:n.*86-801G>A
ENST00000674127.2:c.*139G>A (GLA)	ENSP00000501044.2:n.*139G>A
ENST00000710365.1:c.715-801G>A (GLA)	ENSP00000518234.1:n.715-801G>A
ENST00000218516.4:c.640-801G>A (GLA) MANE Select	ENSP00000218516.4:n.640-801G>A
ENST00000466414.2:n.559-801G>A (GLA)
ENST00000468823.2:n.1575-801G>A (GLA)
ENST00000479445.2:n.1037-801G>A (GLA)
ENST00000480513.6:c.548-801G>A (GLA)	ENSP00000497055.1:n.548-801G>A
ENST00000486121.6:c.685-801G>A (GLA)
ENST00000649178.1:c.763-801G>A (GLA)	ENSP00000498186.1:n.763-801G>A
ENST00000674127.1:c.736G>A (GLA)	ENSP00000501044.1:n.736G>A
ENST00000674142.1:n.727-801G>A (GLA)
ENST00000674634.2:c.640-801G>A (GLA)	ENSP00000502629.2:n.640-801G>A
ENST00000675592.1:c.640-801G>A (GLA)	ENSP00000502239.1:n.640-801G>A
ENST00000675799.1:c.548-801G>A (GLA)	ENSP00000502661.1:n.548-801G>A
ENST00000675968.1:n.2493G>A (GLA)
ENST00000676156.1:c.604-801G>A (GLA)	ENSP00000501730.1:n.604-801G>A
ENST00000676372.1:c.640-801G>A (GLA)	ENSP00000502805.1:n.640-801G>A
ENST00000218516.3:c.640-801G>A (GLA)	ENSP00000218516.3:n.640-801G>A
ENST00000409170.3:c.300+4290C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+4290C>T
ENST00000409338.5:c.177+7925C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7925C>T
ENST00000468823.1:n.189-801G>A (GLA)
ENST00000480513.5:n.478-801G>A (GLA)
ENST00000486121.5:n.685-801G>A (GLA)
ENST00000493905.6:c.*24G>A (GLA)	ENSP00000476935.1:n.*24G>A
NM_000169.2:c.640-801G>A , LRG_672t1:c.640-801G>A (GLA)	NP_000160.1:n.640-801G>A
NM_001199973.1:c.408+4290C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+4290C>T
NM_001199974.1:c.285+7925C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7925C>T
XR_938397.1:n.721G>A (GLA)
XR_938397.2:n.742G>A (GLA)
NM_001199973.2:c.300+4290C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+4290C>T
NM_001199974.2:c.177+7925C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7925C>T
NM_000169.3:c.640-801G>A (GLA) MANE Select	NP_000160.1:n.640-801G>A
NR_164783.1:n.715G>A (GLA)