Canonical Allele Identifier: CA022237

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92574
• ClinVar RCV Id: RCV000078306 ; RCV000157881
• dbSNP Id: rs398123228
• MyVariant Identifiers: chrX:g.100653383C>T (hg19) ; chrX:g.101398395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398395C>T , CM000685.2:g.101398395C>T	GRCh38
NC_000023.10:g.100653383C>T , CM000685.1:g.100653383C>T	GRCh37
NC_000023.9:g.100540039C>T	NCBI36
NG_007119.1:g.14569G>A , LRG_672:g.14569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*420G>A (GLA)	ENSP00000501124.2:n.*420G>A
ENST00000674127.2:c.*477G>A (GLA)	ENSP00000501044.2:n.*477G>A
ENST00000710365.1:c.1049G>A (GLA)	ENSP00000518234.1:p.Gly350Asp
ENST00000218516.4:c.974G>A (GLA) MANE Select	ENSP00000218516.4:p.Gly325Asp
ENST00000466414.2:n.1110G>A (GLA)
ENST00000468823.2:n.2126G>A (GLA)
ENST00000479445.2:n.1588G>A (GLA)
ENST00000480513.6:c.*282G>A (GLA)	ENSP00000497055.1:n.*282G>A
ENST00000486121.6:c.1019G>A (GLA)
ENST00000649178.1:c.1097G>A (GLA)	ENSP00000498186.1:p.Gly366Asp
ENST00000674127.1:c.1074G>A (GLA)	ENSP00000501044.1:n.1074G>A
ENST00000674142.1:n.1278G>A (GLA)
ENST00000674634.2:c.974G>A (GLA)	ENSP00000502629.2:p.Gly325Asp
ENST00000675592.1:c.802-296G>A (GLA)	ENSP00000502239.1:n.802-296G>A
ENST00000675799.1:c.*499G>A (GLA)	ENSP00000502661.1:n.*499G>A
ENST00000675968.1:n.3845G>A (GLA)
ENST00000676156.1:c.938G>A (GLA)	ENSP00000501730.1:p.Gly313Asp
ENST00000676372.1:c.1040G>A (GLA)	ENSP00000502805.1:n.1040G>A
ENST00000218516.3:c.974G>A (GLA)	ENSP00000218516.3:p.Gly325Asp
ENST00000409170.3:c.300+2938C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2938C>T
ENST00000409338.5:c.177+6573C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6573C>T
ENST00000466414.1:n.300G>A (GLA)
ENST00000493905.6:c.*362G>A (GLA)	ENSP00000476935.1:n.*362G>A
NM_000169.2:c.974G>A , LRG_672t1:c.974G>A (GLA)	NP_000160.1:p.Gly325Asp
NM_001199973.1:c.408+2938C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2938C>T
NM_001199974.1:c.285+6573C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6573C>T
XR_938397.1:n.1059G>A (GLA)
XR_938397.2:n.1080G>A (GLA)
NM_001199973.2:c.300+2938C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2938C>T
NM_001199974.2:c.177+6573C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6573C>T
NM_000169.3:c.974G>A (GLA) MANE Select	NP_000160.1:p.Gly325Asp
NR_164783.1:n.1053G>A (GLA)