Canonical Allele Identifier: CA517736491

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 743500
• ClinVar RCV Id: RCV000919861
• dbSNP Id: rs1207270634
• gnomAD v2: X-100652989-G-A
• gnomAD v4: X-101398001-G-A
• MyVariant Identifiers: chrX:g.100652989G>A (hg19) ; chrX:g.101398001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398001G>A , CM000685.2:g.101398001G>A	GRCh38
NC_000023.10:g.100652989G>A , CM000685.1:g.100652989G>A	GRCh37
NC_000023.9:g.100539645G>A	NCBI36
NG_007119.1:g.14963C>T , LRG_672:g.14963C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*544C>T (GLA)	ENSP00000501124.2:n.*544C>T
ENST00000674127.2:c.*601C>T (GLA)	ENSP00000501044.2:n.*601C>T
ENST00000710365.1:c.1173C>T (GLA)	ENSP00000518234.1:p.Thr391=
ENST00000218516.4:c.1098C>T (GLA) MANE Select	ENSP00000218516.4:p.Thr366=
ENST00000466414.2:n.1234C>T (GLA)
ENST00000468823.2:n.2520C>T (GLA)
ENST00000479445.2:n.1712C>T (GLA)
ENST00000480513.6:c.*406C>T (GLA)	ENSP00000497055.1:n.*406C>T
ENST00000486121.6:c.1143C>T (GLA)
ENST00000649178.1:c.1221C>T (GLA)	ENSP00000498186.1:p.Thr407=
ENST00000674127.1:c.1198C>T (GLA)	ENSP00000501044.1:n.1198C>T
ENST00000674142.1:n.1402C>T (GLA)
ENST00000675592.1:c.900C>T (GLA)	ENSP00000502239.1:p.Thr300=
ENST00000675799.1:c.*623C>T (GLA)	ENSP00000502661.1:n.*623C>T
ENST00000675968.1:n.3969C>T (GLA)
ENST00000676156.1:c.1062C>T (GLA)	ENSP00000501730.1:p.Thr354=
ENST00000676372.1:c.1164C>T (GLA)	ENSP00000502805.1:n.1164C>T
ENST00000218516.3:c.1098C>T (GLA)	ENSP00000218516.3:p.Thr366=
ENST00000409170.3:c.300+2544G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2544G>A
ENST00000409338.5:c.177+6179G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6179G>A
ENST00000466414.1:n.424C>T (GLA)
ENST00000493905.6:c.*486C>T (GLA)	ENSP00000476935.1:n.*486C>T
NM_000169.2:c.1098C>T , LRG_672t1:c.1098C>T (GLA)	NP_000160.1:p.Thr366=
NM_001199973.1:c.408+2544G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2544G>A
NM_001199974.1:c.285+6179G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6179G>A
XR_938397.1:n.1183C>T (GLA)
XR_938397.2:n.1204C>T (GLA)
NM_001199973.2:c.300+2544G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2544G>A
NM_001199974.2:c.177+6179G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6179G>A
NM_000169.3:c.1098C>T (GLA) MANE Select	NP_000160.1:p.Thr366=
NR_164783.1:n.1177C>T (GLA)