Canonical Allele Identifier: CA413922007

Gene: GLA RPL36A-HNRNPH2

Linked Data

• COSMIC: COSM1638268
• MyVariant Identifiers: chrX:g.100653434T>C (hg19) ; chrX:g.101398446T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398446T>C , CM000685.2:g.101398446T>C	GRCh38
NC_000023.10:g.100653434T>C , CM000685.1:g.100653434T>C	GRCh37
NC_000023.9:g.100540090T>C	NCBI36
NG_007119.1:g.14518A>G , LRG_672:g.14518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*369A>G (GLA)	ENSP00000501124.2:n.*369A>G
ENST00000674127.2:c.*426A>G (GLA)	ENSP00000501044.2:n.*426A>G
ENST00000710365.1:c.998A>G (GLA)	ENSP00000518234.1:p.Lys333Arg
ENST00000218516.4:c.923A>G (GLA) MANE Select	ENSP00000218516.4:p.Lys308Arg
ENST00000466414.2:n.1059A>G (GLA)
ENST00000468823.2:n.2075A>G (GLA)
ENST00000479445.2:n.1537A>G (GLA)
ENST00000480513.6:c.*231A>G (GLA)	ENSP00000497055.1:n.*231A>G
ENST00000486121.6:c.968A>G (GLA)
ENST00000649178.1:c.1046A>G (GLA)	ENSP00000498186.1:p.Lys349Arg
ENST00000674127.1:c.1023A>G (GLA)	ENSP00000501044.1:n.1023A>G
ENST00000674142.1:n.1227A>G (GLA)
ENST00000674634.2:c.923A>G (GLA)	ENSP00000502629.2:p.Lys308Arg
ENST00000675592.1:c.801+339A>G (GLA)	ENSP00000502239.1:n.801+339A>G
ENST00000675799.1:c.*448A>G (GLA)	ENSP00000502661.1:n.*448A>G
ENST00000675968.1:n.3794A>G (GLA)
ENST00000676156.1:c.887A>G (GLA)	ENSP00000501730.1:p.Lys296Arg
ENST00000676372.1:c.989A>G (GLA)	ENSP00000502805.1:n.989A>G
ENST00000218516.3:c.923A>G (GLA)	ENSP00000218516.3:p.Lys308Arg
ENST00000409170.3:c.300+2989T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2989T>C
ENST00000409338.5:c.177+6624T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6624T>C
ENST00000466414.1:n.249A>G (GLA)
ENST00000493905.6:c.*311A>G (GLA)	ENSP00000476935.1:n.*311A>G
NM_000169.2:c.923A>G , LRG_672t1:c.923A>G (GLA)	NP_000160.1:p.Lys308Arg
NM_001199973.1:c.408+2989T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2989T>C
NM_001199974.1:c.285+6624T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6624T>C
XR_938397.1:n.1008A>G (GLA)
XR_938397.2:n.1029A>G (GLA)
NM_001199973.2:c.300+2989T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2989T>C
NM_001199974.2:c.177+6624T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6624T>C
NM_000169.3:c.923A>G (GLA) MANE Select	NP_000160.1:p.Lys308Arg
NR_164783.1:n.1002A>G (GLA)