Canonical Allele Identifier: CA517736877

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653544G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398556G>T , CM000685.2:g.101398556G>T	GRCh38
NC_000023.10:g.100653544G>T , CM000685.1:g.100653544G>T	GRCh37
NC_000023.9:g.100540200G>T	NCBI36
NG_007119.1:g.14408C>A , LRG_672:g.14408C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*259C>A (GLA)	ENSP00000501124.2:n.*259C>A
ENST00000674127.2:c.*316C>A (GLA)	ENSP00000501044.2:n.*316C>A
ENST00000710365.1:c.888C>A (GLA)	ENSP00000518234.1:p.Gly296=
ENST00000218516.4:c.813C>A (GLA) MANE Select	ENSP00000218516.4:p.Gly271=
ENST00000466414.2:n.949C>A (GLA)
ENST00000468823.2:n.1965C>A (GLA)
ENST00000479445.2:n.1427C>A (GLA)
ENST00000480513.6:c.*121C>A (GLA)	ENSP00000497055.1:n.*121C>A
ENST00000486121.6:c.858C>A (GLA)
ENST00000649178.1:c.936C>A (GLA)	ENSP00000498186.1:p.Gly312=
ENST00000674127.1:c.913C>A (GLA)	ENSP00000501044.1:n.913C>A
ENST00000674142.1:n.1117C>A (GLA)
ENST00000674634.2:c.813C>A (GLA)	ENSP00000502629.2:p.Gly271=
ENST00000675592.1:c.801+229C>A (GLA)	ENSP00000502239.1:n.801+229C>A
ENST00000675799.1:c.*338C>A (GLA)	ENSP00000502661.1:n.*338C>A
ENST00000675968.1:n.3684C>A (GLA)
ENST00000676156.1:c.777C>A (GLA)	ENSP00000501730.1:p.Gly259=
ENST00000676372.1:c.879C>A (GLA)	ENSP00000502805.1:n.879C>A
ENST00000218516.3:c.813C>A (GLA)	ENSP00000218516.3:p.Gly271=
ENST00000409170.3:c.300+3099G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3099G>T
ENST00000409338.5:c.177+6734G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6734G>T
ENST00000466414.1:n.139C>A (GLA)
ENST00000468823.1:n.579C>A (GLA)
ENST00000493905.6:c.*201C>A (GLA)	ENSP00000476935.1:n.*201C>A
NM_000169.2:c.813C>A , LRG_672t1:c.813C>A (GLA)	NP_000160.1:p.Gly271=
NM_001199973.1:c.408+3099G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3099G>T
NM_001199974.1:c.285+6734G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6734G>T
XR_938397.1:n.898C>A (GLA)
XR_938397.2:n.919C>A (GLA)
NM_001199973.2:c.300+3099G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3099G>T
NM_001199974.2:c.177+6734G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6734G>T
NM_000169.3:c.813C>A (GLA) MANE Select	NP_000160.1:p.Gly271=
NR_164783.1:n.892C>A (GLA)