Canonical Allele Identifier: CA162689

Gene: WAS

Linked Data

• ClinVar Variation Id: 36912
• ClinVar RCV Id: RCV000030596 ; RCV001086760 ; RCV003914875 ; RCV000122270 ; RCV000419963
• dbSNP Id: rs145040665
• ExAC: X:48544502 C / A
• gnomAD v2: X-48544502-C-A
• gnomAD v3: X-48686113-C-A
• gnomAD v4: X-48686113-C-A
• MyVariant Identifiers: chrX:g.48544502C>A (hg19) ; chrX:g.48686113C>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48686113C>A , CM000685.2:g.48686113C>A	GRCh38
NC_000023.10:g.48544502C>A , CM000685.1:g.48544502C>A	GRCh37
NC_000023.9:g.48429446C>A	NCBI36
NG_007877.1:g.7317C>A , LRG_125:g.7317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.571C>A
ENST00000490627.2:n.150C>A
ENST00000698625.1:c.538C>A	ENSP00000513844.1:p.His180Asn
ENST00000698626.1:c.538C>A	ENSP00000513845.1:p.His180Asn
ENST00000698635.1:c.538C>A	ENSP00000513850.1:p.His180Asn
ENST00000376701.5:c.538C>A MANE Select	ENSP00000365891.4:p.His180Asn
ENST00000376701.4:c.538C>A	ENSP00000365891.4:p.His180Asn
ENST00000450772.5:c.538C>A	ENSP00000410537.1:p.His180Asn
ENST00000465982.5:n.498+277C>A
ENST00000483750.5:n.564C>A
ENST00000490627.1:n.133C>A
NM_000377.2:c.538C>A , LRG_125t1:c.538C>A	NP_000368.1:p.His180Asn
XM_011543977.1:c.538C>A	XP_011542279.1:p.His180Asn
XM_011543977.2:c.538C>A	XP_011542279.1:p.His180Asn
XM_017029786.1:c.538C>A	XP_016885275.1:p.His180Asn
NM_000377.3:c.538C>A MANE Select	NP_000368.1:p.His180Asn