Canonical Allele Identifier: CA281104

Gene: WAS

Linked Data

• ClinVar Variation Id: 29967
• ClinVar RCV Id: RCV000022859 ; RCV001058962 ; RCV001268500 ; RCV003407355
• dbSNP Id: rs387906717
• MyVariant Identifiers: chrX:g.48546792T>C (hg19) ; chrX:g.48688403T>C (hg38)
• PubMed: PMID:3284030 ; PMID:16804117 ; PMID:19006568

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688403T>C , CM000685.2:g.48688403T>C	GRCh38
NC_000023.10:g.48546792T>C , CM000685.1:g.48546792T>C	GRCh37
NC_000023.9:g.48431736T>C	NCBI36
NG_007877.1:g.9607T>C , LRG_125:g.9607T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.125T>C
ENST00000698625.1:c.881T>C	ENSP00000513844.1:p.Ile294Thr
ENST00000698626.1:c.881T>C	ENSP00000513845.1:p.Ile294Thr
ENST00000698635.1:c.881T>C	ENSP00000513850.1:p.Ile294Thr
ENST00000376701.5:c.881T>C MANE Select	ENSP00000365891.4:p.Ile294Thr
ENST00000376701.4:c.881T>C	ENSP00000365891.4:p.Ile294Thr
ENST00000474174.1:n.125T>C
NM_000377.2:c.881T>C , LRG_125t1:c.881T>C	NP_000368.1:p.Ile294Thr
XM_011543977.1:c.881T>C	XP_011542279.1:p.Ile294Thr
XM_011543977.2:c.881T>C	XP_011542279.1:p.Ile294Thr
XM_017029786.1:c.881T>C	XP_016885275.1:p.Ile294Thr
NM_000377.3:c.881T>C MANE Select	NP_000368.1:p.Ile294Thr