Canonical Allele Identifier: CA413924016

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653801C>T (hg19) ; chrX:g.101398813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398813C>T , CM000685.2:g.101398813C>T	GRCh38
NC_000023.10:g.100653801C>T , CM000685.1:g.100653801C>T	GRCh37
NC_000023.9:g.100540457C>T	NCBI36
NG_007119.1:g.14151G>A , LRG_672:g.14151G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*219G>A (GLA)	ENSP00000501124.2:n.*219G>A
ENST00000674127.2:c.*276G>A (GLA)	ENSP00000501044.2:n.*276G>A
ENST00000710365.1:c.848G>A (GLA)	ENSP00000518234.1:p.Gly283Glu
ENST00000218516.4:c.773G>A (GLA) MANE Select	ENSP00000218516.4:p.Gly258Glu
ENST00000466414.2:n.692G>A (GLA)
ENST00000468823.2:n.1708G>A (GLA)
ENST00000479445.2:n.1170G>A (GLA)
ENST00000480513.6:c.*81G>A (GLA)	ENSP00000497055.1:n.*81G>A
ENST00000486121.6:c.818G>A (GLA)
ENST00000649178.1:c.896G>A (GLA)	ENSP00000498186.1:p.Gly299Glu
ENST00000674127.1:c.873G>A (GLA)	ENSP00000501044.1:n.873G>A
ENST00000674142.1:n.860G>A (GLA)
ENST00000674634.2:c.773G>A (GLA)	ENSP00000502629.2:p.Gly258Glu
ENST00000675592.1:c.773G>A (GLA)	ENSP00000502239.1:p.Gly258Glu
ENST00000675799.1:c.*81G>A (GLA)	ENSP00000502661.1:n.*81G>A
ENST00000675968.1:n.3427G>A (GLA)
ENST00000676156.1:c.737G>A (GLA)	ENSP00000501730.1:p.Gly246Glu
ENST00000676372.1:c.773G>A (GLA)	ENSP00000502805.1:p.Gly258Glu
ENST00000218516.3:c.773G>A (GLA)	ENSP00000218516.3:p.Gly258Glu
ENST00000409170.3:c.300+3356C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3356C>T
ENST00000409338.5:c.177+6991C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6991C>T
ENST00000468823.1:n.322G>A (GLA)
ENST00000480513.5:n.611G>A (GLA)
ENST00000493905.6:c.*161G>A (GLA)	ENSP00000476935.1:n.*161G>A
NM_000169.2:c.773G>A , LRG_672t1:c.773G>A (GLA)	NP_000160.1:p.Gly258Glu
NM_001199973.1:c.408+3356C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3356C>T
NM_001199974.1:c.285+6991C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6991C>T
XR_938397.1:n.858G>A (GLA)
XR_938397.2:n.879G>A (GLA)
NM_001199973.2:c.300+3356C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3356C>T
NM_001199974.2:c.177+6991C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6991C>T
NM_000169.3:c.773G>A (GLA) MANE Select	NP_000160.1:p.Gly258Glu
NR_164783.1:n.852G>A (GLA)