Canonical Allele Identifier: CA413920657

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652988T>C (hg19) ; chrX:g.101398000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398000T>C , CM000685.2:g.101398000T>C	GRCh38
NC_000023.10:g.100652988T>C , CM000685.1:g.100652988T>C	GRCh37
NC_000023.9:g.100539644T>C	NCBI36
NG_007119.1:g.14964A>G , LRG_672:g.14964A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*545A>G (GLA)	ENSP00000501124.2:n.*545A>G
ENST00000674127.2:c.*602A>G (GLA)	ENSP00000501044.2:n.*602A>G
ENST00000710365.1:c.1174A>G (GLA)	ENSP00000518234.1:p.Ile392Val
ENST00000218516.4:c.1099A>G (GLA) MANE Select	ENSP00000218516.4:p.Ile367Val
ENST00000466414.2:n.1235A>G (GLA)
ENST00000468823.2:n.2521A>G (GLA)
ENST00000479445.2:n.1713A>G (GLA)
ENST00000480513.6:c.*407A>G (GLA)	ENSP00000497055.1:n.*407A>G
ENST00000486121.6:c.1144A>G (GLA)
ENST00000649178.1:c.1222A>G (GLA)	ENSP00000498186.1:p.Ile408Val
ENST00000674127.1:c.1199A>G (GLA)	ENSP00000501044.1:n.1199A>G
ENST00000674142.1:n.1403A>G (GLA)
ENST00000675592.1:c.901A>G (GLA)	ENSP00000502239.1:p.Ile301Val
ENST00000675799.1:c.*624A>G (GLA)	ENSP00000502661.1:n.*624A>G
ENST00000675968.1:n.3970A>G (GLA)
ENST00000676156.1:c.1063A>G (GLA)	ENSP00000501730.1:p.Ile355Val
ENST00000676372.1:c.1165A>G (GLA)	ENSP00000502805.1:n.1165A>G
ENST00000218516.3:c.1099A>G (GLA)	ENSP00000218516.3:p.Ile367Val
ENST00000409170.3:c.300+2543T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2543T>C
ENST00000409338.5:c.177+6178T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6178T>C
ENST00000466414.1:n.425A>G (GLA)
ENST00000493905.6:c.*487A>G (GLA)	ENSP00000476935.1:n.*487A>G
NM_000169.2:c.1099A>G , LRG_672t1:c.1099A>G (GLA)	NP_000160.1:p.Ile367Val
NM_001199973.1:c.408+2543T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2543T>C
NM_001199974.1:c.285+6178T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6178T>C
XR_938397.1:n.1184A>G (GLA)
XR_938397.2:n.1205A>G (GLA)
NM_001199973.2:c.300+2543T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2543T>C
NM_001199974.2:c.177+6178T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6178T>C
NM_000169.3:c.1099A>G (GLA) MANE Select	NP_000160.1:p.Ile367Val
NR_164783.1:n.1178A>G (GLA)