Canonical Allele Identifier: CA413921208

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653066C>G (hg19) ; chrX:g.101398078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398078C>G , CM000685.2:g.101398078C>G	GRCh38
NC_000023.10:g.100653066C>G , CM000685.1:g.100653066C>G	GRCh37
NC_000023.9:g.100539722C>G	NCBI36
NG_007119.1:g.14886G>C , LRG_672:g.14886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*467G>C (GLA)	ENSP00000501124.2:n.*467G>C
ENST00000674127.2:c.*524G>C (GLA)	ENSP00000501044.2:n.*524G>C
ENST00000710365.1:c.1096G>C (GLA)	ENSP00000518234.1:p.Glu366Gln
ENST00000218516.4:c.1021G>C (GLA) MANE Select	ENSP00000218516.4:p.Glu341Gln
ENST00000466414.2:n.1157G>C (GLA)
ENST00000468823.2:n.2443G>C (GLA)
ENST00000479445.2:n.1635G>C (GLA)
ENST00000480513.6:c.*329G>C (GLA)	ENSP00000497055.1:n.*329G>C
ENST00000486121.6:c.1066G>C (GLA)
ENST00000649178.1:c.1144G>C (GLA)	ENSP00000498186.1:p.Glu382Gln
ENST00000674127.1:c.1121G>C (GLA)	ENSP00000501044.1:n.1121G>C
ENST00000674142.1:n.1325G>C (GLA)
ENST00000675592.1:c.823G>C (GLA)	ENSP00000502239.1:p.Glu275Gln
ENST00000675799.1:c.*546G>C (GLA)	ENSP00000502661.1:n.*546G>C
ENST00000675968.1:n.3892G>C (GLA)
ENST00000676156.1:c.985G>C (GLA)	ENSP00000501730.1:p.Glu329Gln
ENST00000676372.1:c.1087G>C (GLA)	ENSP00000502805.1:n.1087G>C
ENST00000218516.3:c.1021G>C (GLA)	ENSP00000218516.3:p.Glu341Gln
ENST00000409170.3:c.300+2621C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2621C>G
ENST00000409338.5:c.177+6256C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6256C>G
ENST00000466414.1:n.347G>C (GLA)
ENST00000493905.6:c.*409G>C (GLA)	ENSP00000476935.1:n.*409G>C
NM_000169.2:c.1021G>C , LRG_672t1:c.1021G>C (GLA)	NP_000160.1:p.Glu341Gln
NM_001199973.1:c.408+2621C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2621C>G
NM_001199974.1:c.285+6256C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6256C>G
XR_938397.1:n.1106G>C (GLA)
XR_938397.2:n.1127G>C (GLA)
NM_001199973.2:c.300+2621C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2621C>G
NM_001199974.2:c.177+6256C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6256C>G
NM_000169.3:c.1021G>C (GLA) MANE Select	NP_000160.1:p.Glu341Gln
NR_164783.1:n.1100G>C (GLA)