Canonical Allele Identifier: CA413921108

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2752223
• ClinVar RCV Id: RCV003509474
• MyVariant Identifiers: chrX:g.100653044G>T (hg19) ; chrX:g.101398056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398056G>T , CM000685.2:g.101398056G>T	GRCh38
NC_000023.10:g.100653044G>T , CM000685.1:g.100653044G>T	GRCh37
NC_000023.9:g.100539700G>T	NCBI36
NG_007119.1:g.14908C>A , LRG_672:g.14908C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*489C>A (GLA)	ENSP00000501124.2:n.*489C>A
ENST00000674127.2:c.*546C>A (GLA)	ENSP00000501044.2:n.*546C>A
ENST00000710365.1:c.1118C>A (GLA)	ENSP00000518234.1:p.Ala373Asp
ENST00000218516.4:c.1043C>A (GLA) MANE Select	ENSP00000218516.4:p.Ala348Asp
ENST00000466414.2:n.1179C>A (GLA)
ENST00000468823.2:n.2465C>A (GLA)
ENST00000479445.2:n.1657C>A (GLA)
ENST00000480513.6:c.*351C>A (GLA)	ENSP00000497055.1:n.*351C>A
ENST00000486121.6:c.1088C>A (GLA)
ENST00000649178.1:c.1166C>A (GLA)	ENSP00000498186.1:p.Ala389Asp
ENST00000674127.1:c.1143C>A (GLA)	ENSP00000501044.1:n.1143C>A
ENST00000674142.1:n.1347C>A (GLA)
ENST00000675592.1:c.845C>A (GLA)	ENSP00000502239.1:p.Ala282Asp
ENST00000675799.1:c.*568C>A (GLA)	ENSP00000502661.1:n.*568C>A
ENST00000675968.1:n.3914C>A (GLA)
ENST00000676156.1:c.1007C>A (GLA)	ENSP00000501730.1:p.Ala336Asp
ENST00000676372.1:c.1109C>A (GLA)	ENSP00000502805.1:n.1109C>A
ENST00000218516.3:c.1043C>A (GLA)	ENSP00000218516.3:p.Ala348Asp
ENST00000409170.3:c.300+2599G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2599G>T
ENST00000409338.5:c.177+6234G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6234G>T
ENST00000466414.1:n.369C>A (GLA)
ENST00000493905.6:c.*431C>A (GLA)	ENSP00000476935.1:n.*431C>A
NM_000169.2:c.1043C>A , LRG_672t1:c.1043C>A (GLA)	NP_000160.1:p.Ala348Asp
NM_001199973.1:c.408+2599G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2599G>T
NM_001199974.1:c.285+6234G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6234G>T
XR_938397.1:n.1128C>A (GLA)
XR_938397.2:n.1149C>A (GLA)
NM_001199973.2:c.300+2599G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2599G>T
NM_001199974.2:c.177+6234G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6234G>T
NM_000169.3:c.1043C>A (GLA) MANE Select	NP_000160.1:p.Ala348Asp
NR_164783.1:n.1122C>A (GLA)