Canonical Allele Identifier: CA516023626
Gene: WAS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48546713C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688324C>A , CM000685.2:g.48688324C>A GRCh38
NC_000023.10:g.48546713C>A , CM000685.1:g.48546713C>A GRCh37
NC_000023.9:g.48431657C>A NCBI36
NG_007877.1:g.9528C>A , LRG_125:g.9528C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.46C>A
ENST00000483750.6:n.1038C>A
ENST00000698625.1:c.802C>A ENSP00000513844.1:p.Arg268=
ENST00000698626.1:c.802C>A ENSP00000513845.1:p.Arg268=
ENST00000698635.1:c.802C>A ENSP00000513850.1:p.Arg268=
ENST00000376701.5:c.802C>A MANE Select ENSP00000365891.4:p.Arg268=
ENST00000376701.4:c.802C>A ENSP00000365891.4:p.Arg268=
ENST00000474174.1:n.46C>A
NM_000377.2:c.802C>A , LRG_125t1:c.802C>A NP_000368.1:p.Arg268=
XM_011543977.1:c.802C>A XP_011542279.1:p.Arg268=
XM_011543977.2:c.802C>A XP_011542279.1:p.Arg268=
XM_017029786.1:c.802C>A XP_016885275.1:p.Arg268=
NM_000377.3:c.802C>A MANE Select NP_000368.1:p.Arg268=