Canonical Allele Identifier: CA352859

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222422
• ClinVar RCV Id: RCV000773679
• dbSNP Id: rs869312428
• MyVariant Identifiers: chrX:g.100653499G>A (hg19) ; chrX:g.101398511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398511G>A , CM000685.2:g.101398511G>A	GRCh38
NC_000023.10:g.100653499G>A , CM000685.1:g.100653499G>A	GRCh37
NC_000023.9:g.100540155G>A	NCBI36
NG_007119.1:g.14453C>T , LRG_672:g.14453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*304C>T (GLA)	ENSP00000501124.2:n.*304C>T
ENST00000674127.2:c.*361C>T (GLA)	ENSP00000501044.2:n.*361C>T
ENST00000710365.1:c.933C>T (GLA)	ENSP00000518234.1:p.Leu311=
ENST00000218516.4:c.858C>T (GLA) MANE Select	ENSP00000218516.4:p.Leu286=
ENST00000466414.2:n.994C>T (GLA)
ENST00000468823.2:n.2010C>T (GLA)
ENST00000479445.2:n.1472C>T (GLA)
ENST00000480513.6:c.*166C>T (GLA)	ENSP00000497055.1:n.*166C>T
ENST00000486121.6:c.903C>T (GLA)
ENST00000649178.1:c.981C>T (GLA)	ENSP00000498186.1:p.Leu327=
ENST00000674127.1:c.958C>T (GLA)	ENSP00000501044.1:n.958C>T
ENST00000674142.1:n.1162C>T (GLA)
ENST00000674634.2:c.858C>T (GLA)	ENSP00000502629.2:p.Leu286=
ENST00000675592.1:c.801+274C>T (GLA)	ENSP00000502239.1:n.801+274C>T
ENST00000675799.1:c.*383C>T (GLA)	ENSP00000502661.1:n.*383C>T
ENST00000675968.1:n.3729C>T (GLA)
ENST00000676156.1:c.822C>T (GLA)	ENSP00000501730.1:p.Leu274=
ENST00000676372.1:c.924C>T (GLA)	ENSP00000502805.1:n.924C>T
ENST00000218516.3:c.858C>T (GLA)	ENSP00000218516.3:p.Leu286=
ENST00000409170.3:c.300+3054G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3054G>A
ENST00000409338.5:c.177+6689G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6689G>A
ENST00000466414.1:n.184C>T (GLA)
ENST00000493905.6:c.*246C>T (GLA)	ENSP00000476935.1:n.*246C>T
NM_000169.2:c.858C>T , LRG_672t1:c.858C>T (GLA)	NP_000160.1:p.Leu286=
NM_001199973.1:c.408+3054G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3054G>A
NM_001199974.1:c.285+6689G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6689G>A
XR_938397.1:n.943C>T (GLA)
XR_938397.2:n.964C>T (GLA)
NM_001199973.2:c.300+3054G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3054G>A
NM_001199974.2:c.177+6689G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6689G>A
NM_000169.3:c.858C>T (GLA) MANE Select	NP_000160.1:p.Leu286=
NR_164783.1:n.937C>T (GLA)