Canonical Allele Identifier: CA517736886

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653550C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398562C>G , CM000685.2:g.101398562C>G	GRCh38
NC_000023.10:g.100653550C>G , CM000685.1:g.100653550C>G	GRCh37
NC_000023.9:g.100540206C>G	NCBI36
NG_007119.1:g.14402G>C , LRG_672:g.14402G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*253G>C (GLA)	ENSP00000501124.2:n.*253G>C
ENST00000674127.2:c.*310G>C (GLA)	ENSP00000501044.2:n.*310G>C
ENST00000710365.1:c.882G>C (GLA)	ENSP00000518234.1:p.Val294=
ENST00000218516.4:c.807G>C (GLA) MANE Select	ENSP00000218516.4:p.Val269=
ENST00000466414.2:n.943G>C (GLA)
ENST00000468823.2:n.1959G>C (GLA)
ENST00000479445.2:n.1421G>C (GLA)
ENST00000480513.6:c.*115G>C (GLA)	ENSP00000497055.1:n.*115G>C
ENST00000486121.6:c.852G>C (GLA)
ENST00000649178.1:c.930G>C (GLA)	ENSP00000498186.1:p.Val310=
ENST00000674127.1:c.907G>C (GLA)	ENSP00000501044.1:n.907G>C
ENST00000674142.1:n.1111G>C (GLA)
ENST00000674634.2:c.807G>C (GLA)	ENSP00000502629.2:p.Val269=
ENST00000675592.1:c.801+223G>C (GLA)	ENSP00000502239.1:n.801+223G>C
ENST00000675799.1:c.*332G>C (GLA)	ENSP00000502661.1:n.*332G>C
ENST00000675968.1:n.3678G>C (GLA)
ENST00000676156.1:c.771G>C (GLA)	ENSP00000501730.1:p.Val257=
ENST00000676372.1:c.873G>C (GLA)	ENSP00000502805.1:n.873G>C
ENST00000218516.3:c.807G>C (GLA)	ENSP00000218516.3:p.Val269=
ENST00000409170.3:c.300+3105C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3105C>G
ENST00000409338.5:c.177+6740C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6740C>G
ENST00000466414.1:n.133G>C (GLA)
ENST00000468823.1:n.573G>C (GLA)
ENST00000493905.6:c.*195G>C (GLA)	ENSP00000476935.1:n.*195G>C
NM_000169.2:c.807G>C , LRG_672t1:c.807G>C (GLA)	NP_000160.1:p.Val269=
NM_001199973.1:c.408+3105C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3105C>G
NM_001199974.1:c.285+6740C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6740C>G
XR_938397.1:n.892G>C (GLA)
XR_938397.2:n.913G>C (GLA)
NM_001199973.2:c.300+3105C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3105C>G
NM_001199974.2:c.177+6740C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6740C>G
NM_000169.3:c.807G>C (GLA) MANE Select	NP_000160.1:p.Val269=
NR_164783.1:n.886G>C (GLA)