Canonical Allele Identifier: CA031783

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs782186430
• ExAC: X:100653979 C / T
• gnomAD v2: X-100653979-C-T
• gnomAD v4: X-101398991-C-T
• MyVariant Identifiers: chrX:g.100653979C>T (hg19) ; chrX:g.101398991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398991C>T , CM000685.2:g.101398991C>T	GRCh38
NC_000023.10:g.100653979C>T , CM000685.1:g.100653979C>T	GRCh37
NC_000023.9:g.100540635C>T	NCBI36
NG_007119.1:g.13973G>A , LRG_672:g.13973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-45G>A (GLA)	ENSP00000501124.2:n.*86-45G>A
ENST00000674127.2:c.*143-45G>A (GLA)	ENSP00000501044.2:n.*143-45G>A
ENST00000710365.1:c.715-45G>A (GLA)	ENSP00000518234.1:n.715-45G>A
ENST00000218516.4:c.640-45G>A (GLA) MANE Select	ENSP00000218516.4:n.640-45G>A
ENST00000466414.2:n.559-45G>A (GLA)
ENST00000468823.2:n.1575-45G>A (GLA)
ENST00000479445.2:n.1037-45G>A (GLA)
ENST00000480513.6:c.548-45G>A (GLA)	ENSP00000497055.1:n.548-45G>A
ENST00000486121.6:c.685-45G>A (GLA)
ENST00000649178.1:c.763-45G>A (GLA)	ENSP00000498186.1:n.763-45G>A
ENST00000674127.1:c.740-45G>A (GLA)	ENSP00000501044.1:n.740-45G>A
ENST00000674142.1:n.727-45G>A (GLA)
ENST00000674634.2:c.640-45G>A (GLA)	ENSP00000502629.2:n.640-45G>A
ENST00000675592.1:c.640-45G>A (GLA)	ENSP00000502239.1:n.640-45G>A
ENST00000675799.1:c.548-45G>A (GLA)	ENSP00000502661.1:n.548-45G>A
ENST00000675968.1:n.3249G>A (GLA)
ENST00000676156.1:c.604-45G>A (GLA)	ENSP00000501730.1:n.604-45G>A
ENST00000676372.1:c.640-45G>A (GLA)	ENSP00000502805.1:n.640-45G>A
ENST00000218516.3:c.640-45G>A (GLA)	ENSP00000218516.3:n.640-45G>A
ENST00000409170.3:c.300+3534C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3534C>T
ENST00000409338.5:c.177+7169C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7169C>T
ENST00000468823.1:n.189-45G>A (GLA)
ENST00000480513.5:n.478-45G>A (GLA)
ENST00000486121.5:n.685-45G>A (GLA)
ENST00000493905.6:c.*28-45G>A (GLA)	ENSP00000476935.1:n.*28-45G>A
NM_000169.2:c.640-45G>A , LRG_672t1:c.640-45G>A (GLA)	NP_000160.1:n.640-45G>A
NM_001199973.1:c.408+3534C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3534C>T
NM_001199974.1:c.285+7169C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7169C>T
XR_938397.1:n.725-45G>A (GLA)
XR_938397.2:n.746-45G>A (GLA)
NM_001199973.2:c.300+3534C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3534C>T
NM_001199974.2:c.177+7169C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7169C>T
NM_000169.3:c.640-45G>A (GLA) MANE Select	NP_000160.1:n.640-45G>A
NR_164783.1:n.719-45G>A (GLA)