Canonical Allele Identifier: CA031811

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs782143218
• ExAC: X:100653942 A / AGGGCC
• gnomAD v3: X-101398954-A-AGGGCC
• gnomAD v4: X-101398954-A-AGGGCC
• MyVariant Identifiers: chrX:g.100653942_100653943insGGGCC (hg19) ; chrX:g.101398954_101398955insGGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398954_101398955insGGGCC , CM000685.2:g.101398954_101398955insGGGCC	GRCh38
NC_000023.10:g.100653942_100653943insGGGCC , CM000685.1:g.100653942_100653943insGGGCC	GRCh37
NC_000023.9:g.100540598_100540599insGGGCC	NCBI36
NG_007119.1:g.14009_14010insGGCCC , LRG_672:g.14009_14010insGGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*86-9_*86-8insGGCCC (GLA)	ENSP00000501124.2:n.*86-9_*86-8insGGCCC
ENST00000674127.2:c.*143-9_*143-8insGGCCC (GLA)	ENSP00000501044.2:n.*143-9_*143-8insGGCCC
ENST00000710365.1:c.715-9_715-8insGGCCC (GLA)	ENSP00000518234.1:n.715-9_715-8insGGCCC
ENST00000218516.4:c.640-9_640-8insGGCCC (GLA) MANE Select	ENSP00000218516.4:n.640-9_640-8insGGCCC
ENST00000466414.2:n.559-9_559-8insGGCCC (GLA)
ENST00000468823.2:n.1575-9_1575-8insGGCCC (GLA)
ENST00000479445.2:n.1037-9_1037-8insGGCCC (GLA)
ENST00000480513.6:c.548-9_548-8insGGCCC (GLA)	ENSP00000497055.1:n.548-9_548-8insGGCCC
ENST00000486121.6:c.685-9_685-8insGGCCC (GLA)
ENST00000649178.1:c.763-9_763-8insGGCCC (GLA)	ENSP00000498186.1:n.763-9_763-8insGGCCC
ENST00000674127.1:c.740-9_740-8insGGCCC (GLA)	ENSP00000501044.1:n.740-9_740-8insGGCCC
ENST00000674142.1:n.727-9_727-8insGGCCC (GLA)
ENST00000674634.2:c.640-9_640-8insGGCCC (GLA)	ENSP00000502629.2:n.640-9_640-8insGGCCC
ENST00000675592.1:c.640-9_640-8insGGCCC (GLA)	ENSP00000502239.1:n.640-9_640-8insGGCCC
ENST00000675799.1:c.548-9_548-8insGGCCC (GLA)	ENSP00000502661.1:n.548-9_548-8insGGCCC
ENST00000675968.1:n.3285_3286insGGCCC (GLA)
ENST00000676156.1:c.604-9_604-8insGGCCC (GLA)	ENSP00000501730.1:n.604-9_604-8insGGCCC
ENST00000676372.1:c.640-9_640-8insGGCCC (GLA)	ENSP00000502805.1:n.640-9_640-8insGGCCC
ENST00000218516.3:c.640-9_640-8insGGCCC (GLA)	ENSP00000218516.3:n.640-9_640-8insGGCCC
ENST00000409170.3:c.300+3497_300+3498insGGGCC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3497_300+3498insGGGCC
ENST00000409338.5:c.177+7132_177+7133insGGGCC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7132_177+7133insGGGCC
ENST00000468823.1:n.189-9_189-8insGGCCC (GLA)
ENST00000480513.5:n.478-9_478-8insGGCCC (GLA)
ENST00000486121.5:n.685-9_685-8insGGCCC (GLA)
ENST00000493905.6:c.*28-9_*28-8insGGCCC (GLA)	ENSP00000476935.1:n.*28-9_*28-8insGGCCC
NM_000169.2:c.640-9_640-8insGGCCC , LRG_672t1:c.640-9_640-8insGGCCC (GLA)	NP_000160.1:n.640-9_640-8insGGCCC
NM_001199973.1:c.408+3497_408+3498insGGGCC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3497_408+3498insGGGCC
NM_001199974.1:c.285+7132_285+7133insGGGCC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7132_285+7133insGGGCC
XR_938397.1:n.725-9_725-8insGGCCC (GLA)
XR_938397.2:n.746-9_746-8insGGCCC (GLA)
NM_001199973.2:c.300+3497_300+3498insGGGCC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3497_300+3498insGGGCC
NM_001199974.2:c.177+7132_177+7133insGGGCC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7132_177+7133insGGGCC
NM_000169.3:c.640-9_640-8insGGCCC (GLA) MANE Select	NP_000160.1:n.640-9_640-8insGGCCC
NR_164783.1:n.719-9_719-8insGGCCC (GLA)