Canonical Allele Identifier: CA413923260

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653534G>T (hg19) ; chrX:g.101398546G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398546G>T , CM000685.2:g.101398546G>T	GRCh38
NC_000023.10:g.100653534G>T , CM000685.1:g.100653534G>T	GRCh37
NC_000023.9:g.100540190G>T	NCBI36
NG_007119.1:g.14418C>A , LRG_672:g.14418C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*269C>A (GLA)	ENSP00000501124.2:n.*269C>A
ENST00000674127.2:c.*326C>A (GLA)	ENSP00000501044.2:n.*326C>A
ENST00000710365.1:c.898C>A (GLA)	ENSP00000518234.1:p.Leu300Ile
ENST00000218516.4:c.823C>A (GLA) MANE Select	ENSP00000218516.4:p.Leu275Ile
ENST00000466414.2:n.959C>A (GLA)
ENST00000468823.2:n.1975C>A (GLA)
ENST00000479445.2:n.1437C>A (GLA)
ENST00000480513.6:c.*131C>A (GLA)	ENSP00000497055.1:n.*131C>A
ENST00000486121.6:c.868C>A (GLA)
ENST00000649178.1:c.946C>A (GLA)	ENSP00000498186.1:p.Leu316Ile
ENST00000674127.1:c.923C>A (GLA)	ENSP00000501044.1:n.923C>A
ENST00000674142.1:n.1127C>A (GLA)
ENST00000674634.2:c.823C>A (GLA)	ENSP00000502629.2:p.Leu275Ile
ENST00000675592.1:c.801+239C>A (GLA)	ENSP00000502239.1:n.801+239C>A
ENST00000675799.1:c.*348C>A (GLA)	ENSP00000502661.1:n.*348C>A
ENST00000675968.1:n.3694C>A (GLA)
ENST00000676156.1:c.787C>A (GLA)	ENSP00000501730.1:p.Leu263Ile
ENST00000676372.1:c.889C>A (GLA)	ENSP00000502805.1:n.889C>A
ENST00000218516.3:c.823C>A (GLA)	ENSP00000218516.3:p.Leu275Ile
ENST00000409170.3:c.300+3089G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3089G>T
ENST00000409338.5:c.177+6724G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6724G>T
ENST00000466414.1:n.149C>A (GLA)
ENST00000468823.1:n.589C>A (GLA)
ENST00000493905.6:c.*211C>A (GLA)	ENSP00000476935.1:n.*211C>A
NM_000169.2:c.823C>A , LRG_672t1:c.823C>A (GLA)	NP_000160.1:p.Leu275Ile
NM_001199973.1:c.408+3089G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3089G>T
NM_001199974.1:c.285+6724G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6724G>T
XR_938397.1:n.908C>A (GLA)
XR_938397.2:n.929C>A (GLA)
NM_001199973.2:c.300+3089G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3089G>T
NM_001199974.2:c.177+6724G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6724G>T
NM_000169.3:c.823C>A (GLA) MANE Select	NP_000160.1:p.Leu275Ile
NR_164783.1:n.902C>A (GLA)