Canonical Allele Identifier: CA413924406

Gene: GLA RPL36A-HNRNPH2

Linked Data

• COSMIC: COSM3843012
• MyVariant Identifiers: chrX:g.100653843T>A (hg19) ; chrX:g.101398855T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398855T>A , CM000685.2:g.101398855T>A	GRCh38
NC_000023.10:g.100653843T>A , CM000685.1:g.100653843T>A	GRCh37
NC_000023.9:g.100540499T>A	NCBI36
NG_007119.1:g.14109A>T , LRG_672:g.14109A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*177A>T (GLA)	ENSP00000501124.2:n.*177A>T
ENST00000674127.2:c.*234A>T (GLA)	ENSP00000501044.2:n.*234A>T
ENST00000710365.1:c.806A>T (GLA)	ENSP00000518234.1:p.Asp269Val
ENST00000218516.4:c.731A>T (GLA) MANE Select	ENSP00000218516.4:p.Asp244Val
ENST00000466414.2:n.650A>T (GLA)
ENST00000468823.2:n.1666A>T (GLA)
ENST00000479445.2:n.1128A>T (GLA)
ENST00000480513.6:c.*39A>T (GLA)	ENSP00000497055.1:n.*39A>T
ENST00000486121.6:c.776A>T (GLA)
ENST00000649178.1:c.854A>T (GLA)	ENSP00000498186.1:p.Asp285Val
ENST00000674127.1:c.831A>T (GLA)	ENSP00000501044.1:n.831A>T
ENST00000674142.1:n.818A>T (GLA)
ENST00000674634.2:c.731A>T (GLA)	ENSP00000502629.2:p.Asp244Val
ENST00000675592.1:c.731A>T (GLA)	ENSP00000502239.1:p.Asp244Val
ENST00000675799.1:c.*39A>T (GLA)	ENSP00000502661.1:n.*39A>T
ENST00000675968.1:n.3385A>T (GLA)
ENST00000676156.1:c.695A>T (GLA)	ENSP00000501730.1:p.Asp232Val
ENST00000676372.1:c.731A>T (GLA)	ENSP00000502805.1:p.Asp244Val
ENST00000218516.3:c.731A>T (GLA)	ENSP00000218516.3:p.Asp244Val
ENST00000409170.3:c.300+3398T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3398T>A
ENST00000409338.5:c.177+7033T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7033T>A
ENST00000468823.1:n.280A>T (GLA)
ENST00000480513.5:n.569A>T (GLA)
ENST00000493905.6:c.*119A>T (GLA)	ENSP00000476935.1:n.*119A>T
NM_000169.2:c.731A>T , LRG_672t1:c.731A>T (GLA)	NP_000160.1:p.Asp244Val
NM_001199973.1:c.408+3398T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3398T>A
NM_001199974.1:c.285+7033T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7033T>A
XR_938397.1:n.816A>T (GLA)
XR_938397.2:n.837A>T (GLA)
NM_001199973.2:c.300+3398T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3398T>A
NM_001199974.2:c.177+7033T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7033T>A
NM_000169.3:c.731A>T (GLA) MANE Select	NP_000160.1:p.Asp244Val
NR_164783.1:n.810A>T (GLA)