Canonical Allele Identifier: CA2693643905
Gene: WAS HGNC NCBI

Linked Data

gnomAD v4: X-48688051-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688051C>A , CM000685.2:g.48688051C>A GRCh38
NC_000023.10:g.48546440C>A , CM000685.1:g.48546440C>A GRCh37
NC_000023.9:g.48431384C>A NCBI36
NG_007877.1:g.9255C>A , LRG_125:g.9255C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.768-3C>A
ENST00000490627.2:n.172-3C>A
ENST00000698625.1:c.735-3C>A ENSP00000513844.1:n.735-3C>A
ENST00000698626.1:c.735-3C>A ENSP00000513845.1:n.735-3C>A
ENST00000698635.1:c.735-3C>A ENSP00000513850.1:n.735-3C>A
ENST00000376701.5:c.735-3C>A MANE Select ENSP00000365891.4:n.735-3C>A
ENST00000376701.4:c.735-3C>A ENSP00000365891.4:n.735-3C>A
ENST00000465982.5:n.635-3C>A
ENST00000483750.5:n.761-3C>A
ENST00000490627.1:n.155-3C>A
NM_000377.2:c.735-3C>A , LRG_125t1:c.735-3C>A NP_000368.1:n.735-3C>A
XM_011543977.1:c.735-3C>A XP_011542279.1:n.735-3C>A
XM_011543977.2:c.735-3C>A XP_011542279.1:n.735-3C>A
XM_017029786.1:c.735-3C>A XP_016885275.1:n.735-3C>A
NM_000377.3:c.735-3C>A MANE Select NP_000368.1:n.735-3C>A