Canonical Allele Identifier: CA516023603

Gene: WAS

Linked Data

• ClinVar Variation Id: 1627119
• ClinVar RCV Id: RCV002120760
• dbSNP Id: rs2147265705
• MyVariant Identifiers: chrX:g.48546476T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688087T>C , CM000685.2:g.48688087T>C	GRCh38
NC_000023.10:g.48546476T>C , CM000685.1:g.48546476T>C	GRCh37
NC_000023.9:g.48431420T>C	NCBI36
NG_007877.1:g.9291T>C , LRG_125:g.9291T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.801T>C
ENST00000490627.2:n.205T>C
ENST00000698625.1:c.768T>C	ENSP00000513844.1:p.Asn256=
ENST00000698626.1:c.768T>C	ENSP00000513845.1:p.Asn256=
ENST00000698635.1:c.768T>C	ENSP00000513850.1:p.Asn256=
ENST00000376701.5:c.768T>C MANE Select	ENSP00000365891.4:p.Asn256=
ENST00000376701.4:c.768T>C	ENSP00000365891.4:p.Asn256=
ENST00000465982.5:n.668T>C
ENST00000483750.5:n.794T>C
ENST00000490627.1:n.188T>C
NM_000377.2:c.768T>C , LRG_125t1:c.768T>C	NP_000368.1:p.Asn256=
XM_011543977.1:c.768T>C	XP_011542279.1:p.Asn256=
XM_011543977.2:c.768T>C	XP_011542279.1:p.Asn256=
XM_017029786.1:c.768T>C	XP_016885275.1:p.Asn256=
NM_000377.3:c.768T>C MANE Select	NP_000368.1:p.Asn256=