Canonical Allele Identifier: CA413920635

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1809755
• ClinVar RCV Id: RCV002505970
• MyVariant Identifiers: chrX:g.100652984G>A (hg19) ; chrX:g.101397996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397996G>A , CM000685.2:g.101397996G>A	GRCh38
NC_000023.10:g.100652984G>A , CM000685.1:g.100652984G>A	GRCh37
NC_000023.9:g.100539640G>A	NCBI36
NG_007119.1:g.14968C>T , LRG_672:g.14968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*549C>T (GLA)	ENSP00000501124.2:n.*549C>T
ENST00000674127.2:c.*606C>T (GLA)	ENSP00000501044.2:n.*606C>T
ENST00000710365.1:c.1178C>T (GLA)	ENSP00000518234.1:p.Ala393Val
ENST00000218516.4:c.1103C>T (GLA) MANE Select	ENSP00000218516.4:p.Ala368Val
ENST00000466414.2:n.1239C>T (GLA)
ENST00000468823.2:n.2525C>T (GLA)
ENST00000479445.2:n.1717C>T (GLA)
ENST00000480513.6:c.*411C>T (GLA)	ENSP00000497055.1:n.*411C>T
ENST00000486121.6:c.1148C>T (GLA)
ENST00000649178.1:c.1226C>T (GLA)	ENSP00000498186.1:p.Ala409Val
ENST00000674127.1:c.1203C>T (GLA)	ENSP00000501044.1:n.1203C>T
ENST00000674142.1:n.1407C>T (GLA)
ENST00000675592.1:c.905C>T (GLA)	ENSP00000502239.1:p.Ala302Val
ENST00000675799.1:c.*628C>T (GLA)	ENSP00000502661.1:n.*628C>T
ENST00000675968.1:n.3974C>T (GLA)
ENST00000676156.1:c.1067C>T (GLA)	ENSP00000501730.1:p.Ala356Val
ENST00000676372.1:c.1169C>T (GLA)	ENSP00000502805.1:n.1169C>T
ENST00000218516.3:c.1103C>T (GLA)	ENSP00000218516.3:p.Ala368Val
ENST00000409170.3:c.300+2539G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2539G>A
ENST00000409338.5:c.177+6174G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6174G>A
ENST00000466414.1:n.429C>T (GLA)
ENST00000493905.6:c.*491C>T (GLA)	ENSP00000476935.1:n.*491C>T
NM_000169.2:c.1103C>T , LRG_672t1:c.1103C>T (GLA)	NP_000160.1:p.Ala368Val
NM_001199973.1:c.408+2539G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2539G>A
NM_001199974.1:c.285+6174G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6174G>A
XR_938397.1:n.1188C>T (GLA)
XR_938397.2:n.1209C>T (GLA)
NM_001199973.2:c.300+2539G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2539G>A
NM_001199974.2:c.177+6174G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6174G>A
NM_000169.3:c.1103C>T (GLA) MANE Select	NP_000160.1:p.Ala368Val
NR_164783.1:n.1182C>T (GLA)