Canonical Allele Identifier: CA021996

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 180841
• ClinVar RCV Id: RCV000157899 ; RCV000781420 ; RCV002362843
• dbSNP Id: rs730880450
• MyVariant Identifiers: chrX:g.100653861C>T (hg19) ; chrX:g.101398873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398873C>T , CM000685.2:g.101398873C>T	GRCh38
NC_000023.10:g.100653861C>T , CM000685.1:g.100653861C>T	GRCh37
NC_000023.9:g.100540517C>T	NCBI36
NG_007119.1:g.14091G>A , LRG_672:g.14091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*159G>A (GLA)	ENSP00000501124.2:n.*159G>A
ENST00000674127.2:c.*216G>A (GLA)	ENSP00000501044.2:n.*216G>A
ENST00000710365.1:c.788G>A (GLA)	ENSP00000518234.1:p.Ser263Asn
ENST00000218516.4:c.713G>A (GLA) MANE Select	ENSP00000218516.4:p.Ser238Asn
ENST00000466414.2:n.632G>A (GLA)
ENST00000468823.2:n.1648G>A (GLA)
ENST00000479445.2:n.1110G>A (GLA)
ENST00000480513.6:c.*21G>A (GLA)	ENSP00000497055.1:n.*21G>A
ENST00000486121.6:c.758G>A (GLA)
ENST00000649178.1:c.836G>A (GLA)	ENSP00000498186.1:p.Ser279Asn
ENST00000674127.1:c.813G>A (GLA)	ENSP00000501044.1:n.813G>A
ENST00000674142.1:n.800G>A (GLA)
ENST00000674634.2:c.713G>A (GLA)	ENSP00000502629.2:p.Ser238Asn
ENST00000675592.1:c.713G>A (GLA)	ENSP00000502239.1:p.Ser238Asn
ENST00000675799.1:c.*21G>A (GLA)	ENSP00000502661.1:n.*21G>A
ENST00000675968.1:n.3367G>A (GLA)
ENST00000676156.1:c.677G>A (GLA)	ENSP00000501730.1:p.Ser226Asn
ENST00000676372.1:c.713G>A (GLA)	ENSP00000502805.1:p.Ser238Asn
ENST00000218516.3:c.713G>A (GLA)	ENSP00000218516.3:p.Ser238Asn
ENST00000409170.3:c.300+3416C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3416C>T
ENST00000409338.5:c.177+7051C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7051C>T
ENST00000468823.1:n.262G>A (GLA)
ENST00000480513.5:n.551G>A (GLA)
ENST00000493905.6:c.*101G>A (GLA)	ENSP00000476935.1:n.*101G>A
NM_000169.2:c.713G>A , LRG_672t1:c.713G>A (GLA)	NP_000160.1:p.Ser238Asn
NM_001199973.1:c.408+3416C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3416C>T
NM_001199974.1:c.285+7051C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7051C>T
XR_938397.1:n.798G>A (GLA)
XR_938397.2:n.819G>A (GLA)
NM_001199973.2:c.300+3416C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3416C>T
NM_001199974.2:c.177+7051C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7051C>T
NM_000169.3:c.713G>A (GLA) MANE Select	NP_000160.1:p.Ser238Asn
NR_164783.1:n.792G>A (GLA)