Canonical Allele Identifier: CA413925007

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398919A>G , CM000685.2:g.101398919A>G	GRCh38
NC_000023.10:g.100653907A>G , CM000685.1:g.100653907A>G	GRCh37
NC_000023.9:g.100540563A>G	NCBI36
NG_007119.1:g.14045T>C , LRG_672:g.14045T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.667T>C (GLA) MANE Select	NP_000160.1:p.Cys223Arg
ENST00000218516.4:c.667T>C (GLA) MANE Select	ENSP00000218516.4:p.Cys223Arg
NM_000169.2:c.667T>C , LRG_672t1:c.667T>C (GLA)	NP_000160.1:p.Cys223Arg
NM_001199973.1:c.408+3462A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3462A>G
NM_001199973.2:c.300+3462A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3462A>G
NM_001199974.1:c.285+7097A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7097A>G
NM_001199974.2:c.177+7097A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7097A>G
NR_164783.1:n.746T>C (GLA)
ENST00000218516.3:c.667T>C (GLA)	ENSP00000218516.3:p.Cys223Arg
ENST00000409170.3:c.300+3462A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3462A>G
ENST00000409338.5:c.177+7097A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7097A>G
ENST00000466414.2:n.586T>C (GLA)
ENST00000468823.1:n.216T>C (GLA)
ENST00000468823.2:n.1602T>C (GLA)
ENST00000479445.2:n.1064T>C (GLA)
ENST00000480513.5:n.505T>C (GLA)
ENST00000480513.6:c.575T>C (GLA)	ENSP00000497055.1:p.Leu192Pro
ENST00000486121.5:n.712T>C (GLA)
ENST00000486121.6:c.712T>C (GLA)
ENST00000486121.7:c.*113T>C (GLA)	ENSP00000501124.2:n.*113T>C
ENST00000493905.6:c.*55T>C (GLA)	ENSP00000476935.1:n.*55T>C
ENST00000649178.1:c.790T>C (GLA)	ENSP00000498186.1:p.Cys264Arg
ENST00000674127.1:c.767T>C (GLA)	ENSP00000501044.1:n.767T>C
ENST00000674127.2:c.*170T>C (GLA)	ENSP00000501044.2:n.*170T>C
ENST00000674142.1:n.754T>C (GLA)
ENST00000674634.2:c.667T>C (GLA)	ENSP00000502629.2:p.Cys223Arg
ENST00000675592.1:c.667T>C (GLA)	ENSP00000502239.1:p.Cys223Arg
ENST00000675799.1:c.575T>C (GLA)	ENSP00000502661.1:p.Leu192Pro
ENST00000675968.1:n.3321T>C (GLA)
ENST00000676156.1:c.631T>C (GLA)	ENSP00000501730.1:p.Cys211Arg
ENST00000676372.1:c.667T>C (GLA)	ENSP00000502805.1:p.Cys223Arg
ENST00000710365.1:c.742T>C (GLA)	ENSP00000518234.1:p.Cys248Arg
XR_938397.1:n.752T>C (GLA)
XR_938397.2:n.773T>C (GLA)