Canonical Allele Identifier: CA353123

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217388
• ClinVar RCV Id: RCV000209103 ; RCV000209370
• dbSNP Id: rs869312146
• MyVariant Identifiers: chrX:g.100655732C>T (hg19) ; chrX:g.101400744C>T (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400744C>T , CM000685.2:g.101400744C>T	GRCh38
NC_000023.10:g.100655732C>T , CM000685.1:g.100655732C>T	GRCh37
NC_000023.9:g.100542388C>T	NCBI36
NG_007119.1:g.12220G>A , LRG_672:g.12220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*7G>A (GLA)	ENSP00000501124.2:n.*7G>A
ENST00000674127.2:c.*7G>A (GLA)	ENSP00000501044.2:n.*7G>A
ENST00000710365.1:c.636G>A (GLA)	ENSP00000518234.1:p.Met212Ile
ENST00000218516.4:c.561G>A (GLA) MANE Select	ENSP00000218516.4:p.Met187Ile
ENST00000466414.2:n.480G>A (GLA)
ENST00000468823.2:n.1496G>A (GLA)
ENST00000479445.2:n.958G>A (GLA)
ENST00000480513.6:c.547+888G>A (GLA)	ENSP00000497055.1:n.547+888G>A
ENST00000486121.6:c.606G>A (GLA)
ENST00000649178.1:c.684G>A (GLA)	ENSP00000498186.1:p.Met228Ile
ENST00000674127.1:c.604G>A (GLA)	ENSP00000501044.1:n.604G>A
ENST00000674142.1:n.648G>A (GLA)
ENST00000674634.2:c.561G>A (GLA)	ENSP00000502629.2:p.Met187Ile
ENST00000675592.1:c.561G>A (GLA)	ENSP00000502239.1:p.Met187Ile
ENST00000675799.1:c.547+888G>A (GLA)	ENSP00000502661.1:n.547+888G>A
ENST00000675968.1:n.1496G>A (GLA)
ENST00000676156.1:c.525G>A (GLA)	ENSP00000501730.1:p.Met175Ile
ENST00000676372.1:c.561G>A (GLA)	ENSP00000502805.1:p.Met187Ile
ENST00000218516.3:c.561G>A (GLA)	ENSP00000218516.3:p.Met187Ile
ENST00000409170.3:c.300+5287C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5287C>T
ENST00000409338.5:c.177+8922C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8922C>T
ENST00000468823.1:n.110G>A (GLA)
ENST00000480513.5:n.477+888G>A (GLA)
ENST00000486121.5:n.606G>A (GLA)
ENST00000493905.6:c.561G>A (GLA)	ENSP00000476935.1:p.Met187Ile
NM_000169.2:c.561G>A , LRG_672t1:c.561G>A (GLA)	NP_000160.1:p.Met187Ile
NM_001199973.1:c.408+5287C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5287C>T
NM_001199974.1:c.285+8922C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8922C>T
XR_938397.1:n.589G>A (GLA)
XR_938397.2:n.610G>A (GLA)
NM_001199973.2:c.300+5287C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5287C>T
NM_001199974.2:c.177+8922C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8922C>T
NM_000169.3:c.561G>A (GLA) MANE Select	NP_000160.1:p.Met187Ile
NR_164783.1:n.583G>A (GLA)