Canonical Allele Identifier: CA021753

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 196226
• ClinVar RCV Id: RCV000176999 ; RCV000723475
• dbSNP Id: rs727504350
• MyVariant Identifiers: chrX:g.100656682C>T (hg19) ; chrX:g.101401694C>T (hg38)
• PubMed: PMID:10649504 ; PMID:11668641 ; PMID:15776423 ; PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401694C>T , CM000685.2:g.101401694C>T	GRCh38
NC_000023.10:g.100656682C>T , CM000685.1:g.100656682C>T	GRCh37
NC_000023.9:g.100543338C>T	NCBI36
NG_007119.1:g.11270G>A , LRG_672:g.11270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.485G>A (GLA)	ENSP00000501124.2:p.Trp162Ter
ENST00000674127.2:c.485G>A (GLA)	ENSP00000501044.2:p.Trp162Ter
ENST00000710365.1:c.560G>A (GLA)	ENSP00000518234.1:p.Trp187Ter
ENST00000218516.4:c.485G>A (GLA) MANE Select	ENSP00000218516.4:p.Trp162Ter
ENST00000466414.2:n.404G>A (GLA)
ENST00000468823.2:n.546G>A (GLA)
ENST00000479445.2:n.483G>A (GLA)
ENST00000480513.6:c.485G>A (GLA)	ENSP00000497055.1:p.Trp162Ter
ENST00000486121.6:c.415G>A (GLA)
ENST00000649178.1:c.608G>A (GLA)	ENSP00000498186.1:p.Trp203Ter
ENST00000674127.1:c.413G>A (GLA)	ENSP00000501044.1:p.Trp138Ter
ENST00000674142.1:n.572G>A (GLA)
ENST00000674634.2:c.485G>A (GLA)	ENSP00000502629.2:p.Trp162Ter
ENST00000675592.1:c.485G>A (GLA)	ENSP00000502239.1:p.Trp162Ter
ENST00000675799.1:c.485G>A (GLA)	ENSP00000502661.1:p.Trp162Ter
ENST00000675968.1:n.546G>A (GLA)
ENST00000676156.1:c.485G>A (GLA)	ENSP00000501730.1:p.Trp162Ter
ENST00000676372.1:c.485G>A (GLA)	ENSP00000502805.1:p.Trp162Ter
ENST00000218516.3:c.485G>A (GLA)	ENSP00000218516.3:p.Trp162Ter
ENST00000409170.3:c.300+6237C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6237C>T
ENST00000409338.5:c.177+9872C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9872C>T
ENST00000479445.1:n.469G>A (GLA)
ENST00000480513.5:n.415G>A (GLA)
ENST00000486121.5:n.415G>A (GLA)
ENST00000493905.6:c.485G>A (GLA)	ENSP00000476935.1:p.Trp162Ter
NM_000169.2:c.485G>A , LRG_672t1:c.485G>A (GLA)	NP_000160.1:p.Trp162Ter
NM_001199973.1:c.408+6237C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6237C>T
NM_001199974.1:c.285+9872C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9872C>T
XR_938397.1:n.513G>A (GLA)
XR_938397.2:n.534G>A (GLA)
NM_001199973.2:c.300+6237C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6237C>T
NM_001199974.2:c.177+9872C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9872C>T
NM_000169.3:c.485G>A (GLA) MANE Select	NP_000160.1:p.Trp162Ter
NR_164783.1:n.507G>A (GLA)