Canonical Allele Identifier: CA352532

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222316
• ClinVar RCV Id: RCV000443793 ; RCV001237227
• dbSNP Id: rs869312345
• gnomAD v4: X-101400698-C-T
• MyVariant Identifiers: chrX:g.100655686C>T (hg19) ; chrX:g.101400698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400698C>T , CM000685.2:g.101400698C>T	GRCh38
NC_000023.10:g.100655686C>T , CM000685.1:g.100655686C>T	GRCh37
NC_000023.9:g.100542342C>T	NCBI36
NG_007119.1:g.12266G>A , LRG_672:g.12266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*53G>A (GLA)	ENSP00000501124.2:n.*53G>A
ENST00000674127.2:c.*53G>A (GLA)	ENSP00000501044.2:n.*53G>A
ENST00000710365.1:c.682G>A (GLA)	ENSP00000518234.1:p.Glu228Lys
ENST00000218516.4:c.607G>A (GLA) MANE Select	ENSP00000218516.4:p.Glu203Lys
ENST00000466414.2:n.526G>A (GLA)
ENST00000468823.2:n.1542G>A (GLA)
ENST00000479445.2:n.1004G>A (GLA)
ENST00000480513.6:c.547+934G>A (GLA)	ENSP00000497055.1:n.547+934G>A
ENST00000486121.6:c.652G>A (GLA)
ENST00000649178.1:c.730G>A (GLA)	ENSP00000498186.1:p.Glu244Lys
ENST00000674127.1:c.650G>A (GLA)	ENSP00000501044.1:n.650G>A
ENST00000674142.1:n.694G>A (GLA)
ENST00000674634.2:c.607G>A (GLA)	ENSP00000502629.2:p.Glu203Lys
ENST00000675592.1:c.607G>A (GLA)	ENSP00000502239.1:p.Glu203Lys
ENST00000675799.1:c.547+934G>A (GLA)	ENSP00000502661.1:n.547+934G>A
ENST00000675968.1:n.1542G>A (GLA)
ENST00000676156.1:c.571G>A (GLA)	ENSP00000501730.1:p.Glu191Lys
ENST00000676372.1:c.607G>A (GLA)	ENSP00000502805.1:p.Glu203Lys
ENST00000218516.3:c.607G>A (GLA)	ENSP00000218516.3:p.Glu203Lys
ENST00000409170.3:c.300+5241C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5241C>T
ENST00000409338.5:c.177+8876C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8876C>T
ENST00000468823.1:n.156G>A (GLA)
ENST00000480513.5:n.477+934G>A (GLA)
ENST00000486121.5:n.652G>A (GLA)
ENST00000493905.6:c.607G>A (GLA)	ENSP00000476935.1:p.Glu203Lys
NM_000169.2:c.607G>A , LRG_672t1:c.607G>A (GLA)	NP_000160.1:p.Glu203Lys
NM_001199973.1:c.408+5241C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5241C>T
NM_001199974.1:c.285+8876C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8876C>T
XR_938397.1:n.635G>A (GLA)
XR_938397.2:n.656G>A (GLA)
NM_001199973.2:c.300+5241C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5241C>T
NM_001199974.2:c.177+8876C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8876C>T
NM_000169.3:c.607G>A (GLA) MANE Select	NP_000160.1:p.Glu203Lys
NR_164783.1:n.629G>A (GLA)