Canonical Allele Identifier: CA353104

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217378
• ClinVar RCV Id: RCV000209059 ; RCV000209447
• dbSNP Id: rs869312139
• MyVariant Identifiers: chrX:g.100662702T>A (hg19) ; chrX:g.101407714T>A (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407714T>A , CM000685.2:g.101407714T>A	GRCh38
NC_000023.10:g.100662702T>A , CM000685.1:g.100662702T>A	GRCh37
NC_000023.9:g.100549358T>A	NCBI36
NG_007119.1:g.5250A>T , LRG_672:g.5250A>T
NG_016327.1:g.4512T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.190A>T (GLA)	ENSP00000501124.2:p.Ile64Phe
ENST00000674127.2:c.190A>T (GLA)	ENSP00000501044.2:p.Ile64Phe
ENST00000710365.1:c.190A>T (GLA)	ENSP00000518234.1:p.Ile64Phe
ENST00000218516.4:c.190A>T (GLA) MANE Select	ENSP00000218516.4:p.Ile64Phe
ENST00000466414.2:n.109A>T (GLA)
ENST00000468823.2:n.251A>T (GLA)
ENST00000479445.2:n.188A>T (GLA)
ENST00000480513.6:c.190A>T (GLA)	ENSP00000497055.1:p.Ile64Phe
ENST00000486121.6:c.120A>T (GLA)
ENST00000649178.1:c.190A>T (GLA)	ENSP00000498186.1:p.Ile64Phe
ENST00000674127.1:c.118A>T (GLA)	ENSP00000501044.1:p.Ile40Phe
ENST00000674142.1:n.277A>T (GLA)
ENST00000674634.2:c.190A>T (GLA)	ENSP00000502629.2:p.Ile64Phe
ENST00000675592.1:c.190A>T (GLA)	ENSP00000502239.1:p.Ile64Phe
ENST00000675799.1:c.190A>T (GLA)	ENSP00000502661.1:p.Ile64Phe
ENST00000675968.1:n.251A>T (GLA)
ENST00000676156.1:c.190A>T (GLA)	ENSP00000501730.1:p.Ile64Phe
ENST00000676372.1:c.190A>T (GLA)	ENSP00000502805.1:p.Ile64Phe
ENST00000218516.3:c.190A>T (GLA)	ENSP00000218516.3:p.Ile64Phe
ENST00000409170.3:c.301-4222T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4222T>A
ENST00000409338.5:c.178-4222T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4222T>A
ENST00000479445.1:n.174A>T (GLA)
ENST00000480513.5:n.120A>T (GLA)
ENST00000486121.5:n.120A>T (GLA)
ENST00000493905.6:c.190A>T (GLA)	ENSP00000476935.1:p.Ile64Phe
NM_000169.2:c.190A>T , LRG_672t1:c.190A>T (GLA)	NP_000160.1:p.Ile64Phe
NM_001199973.1:c.409-4222T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4222T>A
NM_001199974.1:c.286-4222T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4222T>A
XR_938397.1:n.218A>T (GLA)
XR_938397.2:n.239A>T (GLA)
NM_001199973.2:c.301-4222T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4222T>A
NM_001199974.2:c.178-4222T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4222T>A
NM_000169.3:c.190A>T (GLA) MANE Select	NP_000160.1:p.Ile64Phe
NR_164783.1:n.212A>T (GLA)