Canonical Allele Identifier: CA413922553

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653476A>T (hg19) ; chrX:g.101398488A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398488A>T , CM000685.2:g.101398488A>T	GRCh38
NC_000023.10:g.100653476A>T , CM000685.1:g.100653476A>T	GRCh37
NC_000023.9:g.100540132A>T	NCBI36
NG_007119.1:g.14476T>A , LRG_672:g.14476T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*327T>A (GLA)	ENSP00000501124.2:n.*327T>A
ENST00000674127.2:c.*384T>A (GLA)	ENSP00000501044.2:n.*384T>A
ENST00000710365.1:c.956T>A (GLA)	ENSP00000518234.1:p.Leu319Ter
ENST00000218516.4:c.881T>A (GLA) MANE Select	ENSP00000218516.4:p.Leu294Ter
ENST00000466414.2:n.1017T>A (GLA)
ENST00000468823.2:n.2033T>A (GLA)
ENST00000479445.2:n.1495T>A (GLA)
ENST00000480513.6:c.*189T>A (GLA)	ENSP00000497055.1:n.*189T>A
ENST00000486121.6:c.926T>A (GLA)
ENST00000649178.1:c.1004T>A (GLA)	ENSP00000498186.1:p.Leu335Ter
ENST00000674127.1:c.981T>A (GLA)	ENSP00000501044.1:n.981T>A
ENST00000674142.1:n.1185T>A (GLA)
ENST00000674634.2:c.881T>A (GLA)	ENSP00000502629.2:p.Leu294Ter
ENST00000675592.1:c.801+297T>A (GLA)	ENSP00000502239.1:n.801+297T>A
ENST00000675799.1:c.*406T>A (GLA)	ENSP00000502661.1:n.*406T>A
ENST00000675968.1:n.3752T>A (GLA)
ENST00000676156.1:c.845T>A (GLA)	ENSP00000501730.1:p.Leu282Ter
ENST00000676372.1:c.947T>A (GLA)	ENSP00000502805.1:n.947T>A
ENST00000218516.3:c.881T>A (GLA)	ENSP00000218516.3:p.Leu294Ter
ENST00000409170.3:c.300+3031A>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3031A>T
ENST00000409338.5:c.177+6666A>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6666A>T
ENST00000466414.1:n.207T>A (GLA)
ENST00000493905.6:c.*269T>A (GLA)	ENSP00000476935.1:n.*269T>A
NM_000169.2:c.881T>A , LRG_672t1:c.881T>A (GLA)	NP_000160.1:p.Leu294Ter
NM_001199973.1:c.408+3031A>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3031A>T
NM_001199974.1:c.285+6666A>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6666A>T
XR_938397.1:n.966T>A (GLA)
XR_938397.2:n.987T>A (GLA)
NM_001199973.2:c.300+3031A>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3031A>T
NM_001199974.2:c.177+6666A>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6666A>T
NM_000169.3:c.881T>A (GLA) MANE Select	NP_000160.1:p.Leu294Ter
NR_164783.1:n.960T>A (GLA)