Canonical Allele Identifier: CA643537141

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1621863
• ClinVar RCV Id: RCV002094349
• dbSNP Id: rs1228378943
• gnomAD v2: X-100656612-A-G
• gnomAD v3: X-101401624-A-G
• gnomAD v4: X-101401624-A-G
• MyVariant Identifiers: chrX:g.100656612A>G (hg19) ; chrX:g.101401624A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401624A>G , CM000685.2:g.101401624A>G	GRCh38
NC_000023.10:g.100656612A>G , CM000685.1:g.100656612A>G	GRCh37
NC_000023.9:g.100543268A>G	NCBI36
NG_007119.1:g.11340T>C , LRG_672:g.11340T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.547+8T>C (GLA)	ENSP00000501124.2:n.547+8T>C
ENST00000674127.2:c.547+8T>C (GLA)	ENSP00000501044.2:n.547+8T>C
ENST00000710365.1:c.622+8T>C (GLA)	ENSP00000518234.1:n.622+8T>C
ENST00000218516.4:c.547+8T>C (GLA) MANE Select	ENSP00000218516.4:n.547+8T>C
ENST00000466414.2:n.466+8T>C (GLA)
ENST00000468823.2:n.616T>C (GLA)
ENST00000479445.2:n.553T>C (GLA)
ENST00000480513.6:c.547+8T>C (GLA)	ENSP00000497055.1:n.547+8T>C
ENST00000486121.6:c.477+8T>C (GLA)
ENST00000649178.1:c.670+8T>C (GLA)	ENSP00000498186.1:n.670+8T>C
ENST00000674127.1:c.475+8T>C (GLA)	ENSP00000501044.1:n.475+8T>C
ENST00000674142.1:n.634+8T>C (GLA)
ENST00000674634.2:c.547+8T>C (GLA)	ENSP00000502629.2:n.547+8T>C
ENST00000675592.1:c.547+8T>C (GLA)	ENSP00000502239.1:n.547+8T>C
ENST00000675799.1:c.547+8T>C (GLA)	ENSP00000502661.1:n.547+8T>C
ENST00000675968.1:n.616T>C (GLA)
ENST00000676156.1:c.511+44T>C (GLA)	ENSP00000501730.1:n.511+44T>C
ENST00000676372.1:c.547+8T>C (GLA)	ENSP00000502805.1:n.547+8T>C
ENST00000218516.3:c.547+8T>C (GLA)	ENSP00000218516.3:n.547+8T>C
ENST00000409170.3:c.300+6167A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6167A>G
ENST00000409338.5:c.177+9802A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9802A>G
ENST00000479445.1:n.539T>C (GLA)
ENST00000480513.5:n.477+8T>C (GLA)
ENST00000486121.5:n.477+8T>C (GLA)
ENST00000493905.6:c.547+8T>C (GLA)	ENSP00000476935.1:n.547+8T>C
NM_000169.2:c.547+8T>C , LRG_672t1:c.547+8T>C (GLA)	NP_000160.1:n.547+8T>C
NM_001199973.1:c.408+6167A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6167A>G
NM_001199974.1:c.285+9802A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9802A>G
XR_938397.1:n.575+8T>C (GLA)
XR_938397.2:n.596+8T>C (GLA)
NM_001199973.2:c.300+6167A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6167A>G
NM_001199974.2:c.177+9802A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9802A>G
NM_000169.3:c.547+8T>C (GLA) MANE Select	NP_000160.1:n.547+8T>C
NR_164783.1:n.569+8T>C (GLA)