Canonical Allele Identifier: CA517736784

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 3071623
• ClinVar RCV Id: RCV004016117
• MyVariant Identifiers: chrX:g.100653385C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398397C>T , CM000685.2:g.101398397C>T	GRCh38
NC_000023.10:g.100653385C>T , CM000685.1:g.100653385C>T	GRCh37
NC_000023.9:g.100540041C>T	NCBI36
NG_007119.1:g.14567G>A , LRG_672:g.14567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*418G>A (GLA)	ENSP00000501124.2:n.*418G>A
ENST00000674127.2:c.*475G>A (GLA)	ENSP00000501044.2:n.*475G>A
ENST00000710365.1:c.1047G>A (GLA)	ENSP00000518234.1:p.Leu349=
ENST00000218516.4:c.972G>A (GLA) MANE Select	ENSP00000218516.4:p.Leu324=
ENST00000466414.2:n.1108G>A (GLA)
ENST00000468823.2:n.2124G>A (GLA)
ENST00000479445.2:n.1586G>A (GLA)
ENST00000480513.6:c.*280G>A (GLA)	ENSP00000497055.1:n.*280G>A
ENST00000486121.6:c.1017G>A (GLA)
ENST00000649178.1:c.1095G>A (GLA)	ENSP00000498186.1:p.Leu365=
ENST00000674127.1:c.1072G>A (GLA)	ENSP00000501044.1:n.1072G>A
ENST00000674142.1:n.1276G>A (GLA)
ENST00000674634.2:c.972G>A (GLA)	ENSP00000502629.2:p.Leu324=
ENST00000675592.1:c.802-298G>A (GLA)	ENSP00000502239.1:n.802-298G>A
ENST00000675799.1:c.*497G>A (GLA)	ENSP00000502661.1:n.*497G>A
ENST00000675968.1:n.3843G>A (GLA)
ENST00000676156.1:c.936G>A (GLA)	ENSP00000501730.1:p.Leu312=
ENST00000676372.1:c.1038G>A (GLA)	ENSP00000502805.1:n.1038G>A
ENST00000218516.3:c.972G>A (GLA)	ENSP00000218516.3:p.Leu324=
ENST00000409170.3:c.300+2940C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2940C>T
ENST00000409338.5:c.177+6575C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6575C>T
ENST00000466414.1:n.298G>A (GLA)
ENST00000493905.6:c.*360G>A (GLA)	ENSP00000476935.1:n.*360G>A
NM_000169.2:c.972G>A , LRG_672t1:c.972G>A (GLA)	NP_000160.1:p.Leu324=
NM_001199973.1:c.408+2940C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2940C>T
NM_001199974.1:c.285+6575C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6575C>T
XR_938397.1:n.1057G>A (GLA)
XR_938397.2:n.1078G>A (GLA)
NM_001199973.2:c.300+2940C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2940C>T
NM_001199974.2:c.177+6575C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6575C>T
NM_000169.3:c.972G>A (GLA) MANE Select	NP_000160.1:p.Leu324=
NR_164783.1:n.1051G>A (GLA)