Canonical Allele Identifier: CA022134

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92568
• ClinVar RCV Id: RCV000078299 ; RCV003509488
• dbSNP Id: rs140329381
• MyVariant Identifiers: chrX:g.100653492T>A (hg19) ; chrX:g.101398504T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398504T>A , CM000685.2:g.101398504T>A	GRCh38
NC_000023.10:g.100653492T>A , CM000685.1:g.100653492T>A	GRCh37
NC_000023.9:g.100540148T>A	NCBI36
NG_007119.1:g.14460A>T , LRG_672:g.14460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*311A>T (GLA)	ENSP00000501124.2:n.*311A>T
ENST00000674127.2:c.*368A>T (GLA)	ENSP00000501044.2:n.*368A>T
ENST00000710365.1:c.940A>T (GLA)	ENSP00000518234.1:p.Ile314Phe
ENST00000218516.4:c.865A>T (GLA) MANE Select	ENSP00000218516.4:p.Ile289Phe
ENST00000466414.2:n.1001A>T (GLA)
ENST00000468823.2:n.2017A>T (GLA)
ENST00000479445.2:n.1479A>T (GLA)
ENST00000480513.6:c.*173A>T (GLA)	ENSP00000497055.1:n.*173A>T
ENST00000486121.6:c.910A>T (GLA)
ENST00000649178.1:c.988A>T (GLA)	ENSP00000498186.1:p.Ile330Phe
ENST00000674127.1:c.965A>T (GLA)	ENSP00000501044.1:n.965A>T
ENST00000674142.1:n.1169A>T (GLA)
ENST00000674634.2:c.865A>T (GLA)	ENSP00000502629.2:p.Ile289Phe
ENST00000675592.1:c.801+281A>T (GLA)	ENSP00000502239.1:n.801+281A>T
ENST00000675799.1:c.*390A>T (GLA)	ENSP00000502661.1:n.*390A>T
ENST00000675968.1:n.3736A>T (GLA)
ENST00000676156.1:c.829A>T (GLA)	ENSP00000501730.1:p.Ile277Phe
ENST00000676372.1:c.931A>T (GLA)	ENSP00000502805.1:n.931A>T
ENST00000218516.3:c.865A>T (GLA)	ENSP00000218516.3:p.Ile289Phe
ENST00000409170.3:c.300+3047T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3047T>A
ENST00000409338.5:c.177+6682T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6682T>A
ENST00000466414.1:n.191A>T (GLA)
ENST00000493905.6:c.*253A>T (GLA)	ENSP00000476935.1:n.*253A>T
NM_000169.2:c.865A>T , LRG_672t1:c.865A>T (GLA)	NP_000160.1:p.Ile289Phe
NM_001199973.1:c.408+3047T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3047T>A
NM_001199974.1:c.285+6682T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6682T>A
XR_938397.1:n.950A>T (GLA)
XR_938397.2:n.971A>T (GLA)
NM_001199973.2:c.300+3047T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3047T>A
NM_001199974.2:c.177+6682T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6682T>A
NM_000169.3:c.865A>T (GLA) MANE Select	NP_000160.1:p.Ile289Phe
NR_164783.1:n.944A>T (GLA)