Canonical Allele Identifier: CA413924137

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653817T>C (hg19) ; chrX:g.101398829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398829T>C , CM000685.2:g.101398829T>C	GRCh38
NC_000023.10:g.100653817T>C , CM000685.1:g.100653817T>C	GRCh37
NC_000023.9:g.100540473T>C	NCBI36
NG_007119.1:g.14135A>G , LRG_672:g.14135A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*203A>G (GLA)	ENSP00000501124.2:n.*203A>G
ENST00000674127.2:c.*260A>G (GLA)	ENSP00000501044.2:n.*260A>G
ENST00000710365.1:c.832A>G (GLA)	ENSP00000518234.1:p.Ile278Val
ENST00000218516.4:c.757A>G (GLA) MANE Select	ENSP00000218516.4:p.Ile253Val
ENST00000466414.2:n.676A>G (GLA)
ENST00000468823.2:n.1692A>G (GLA)
ENST00000479445.2:n.1154A>G (GLA)
ENST00000480513.6:c.*65A>G (GLA)	ENSP00000497055.1:n.*65A>G
ENST00000486121.6:c.802A>G (GLA)
ENST00000649178.1:c.880A>G (GLA)	ENSP00000498186.1:p.Ile294Val
ENST00000674127.1:c.857A>G (GLA)	ENSP00000501044.1:n.857A>G
ENST00000674142.1:n.844A>G (GLA)
ENST00000674634.2:c.757A>G (GLA)	ENSP00000502629.2:p.Ile253Val
ENST00000675592.1:c.757A>G (GLA)	ENSP00000502239.1:p.Ile253Val
ENST00000675799.1:c.*65A>G (GLA)	ENSP00000502661.1:n.*65A>G
ENST00000675968.1:n.3411A>G (GLA)
ENST00000676156.1:c.721A>G (GLA)	ENSP00000501730.1:p.Ile241Val
ENST00000676372.1:c.757A>G (GLA)	ENSP00000502805.1:p.Ile253Val
ENST00000218516.3:c.757A>G (GLA)	ENSP00000218516.3:p.Ile253Val
ENST00000409170.3:c.300+3372T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3372T>C
ENST00000409338.5:c.177+7007T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7007T>C
ENST00000468823.1:n.306A>G (GLA)
ENST00000480513.5:n.595A>G (GLA)
ENST00000493905.6:c.*145A>G (GLA)	ENSP00000476935.1:n.*145A>G
NM_000169.2:c.757A>G , LRG_672t1:c.757A>G (GLA)	NP_000160.1:p.Ile253Val
NM_001199973.1:c.408+3372T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3372T>C
NM_001199974.1:c.285+7007T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7007T>C
XR_938397.1:n.842A>G (GLA)
XR_938397.2:n.863A>G (GLA)
NM_001199973.2:c.300+3372T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3372T>C
NM_001199974.2:c.177+7007T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7007T>C
NM_000169.3:c.757A>G (GLA) MANE Select	NP_000160.1:p.Ile253Val
NR_164783.1:n.836A>G (GLA)