Canonical Allele Identifier: CA2693643938
Gene: WAS HGNC NCBI

Linked Data

gnomAD v4: X-48688112-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688112G>A , CM000685.2:g.48688112G>A GRCh38
NC_000023.10:g.48546501G>A , CM000685.1:g.48546501G>A GRCh37
NC_000023.9:g.48431445G>A NCBI36
NG_007877.1:g.9316G>A , LRG_125:g.9316G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000483750.6:n.826G>A
ENST00000490627.2:n.230G>A
ENST00000698625.1:c.777+16G>A ENSP00000513844.1:n.777+16G>A
ENST00000698626.1:c.777+16G>A ENSP00000513845.1:n.777+16G>A
ENST00000698635.1:c.777+16G>A ENSP00000513850.1:n.777+16G>A
ENST00000376701.5:c.777+16G>A MANE Select ENSP00000365891.4:n.777+16G>A
ENST00000376701.4:c.777+16G>A ENSP00000365891.4:n.777+16G>A
ENST00000465982.5:n.693G>A
ENST00000483750.5:n.819G>A
ENST00000490627.1:n.213G>A
NM_000377.2:c.777+16G>A , LRG_125t1:c.777+16G>A NP_000368.1:n.777+16G>A
XM_011543977.1:c.777+16G>A XP_011542279.1:n.777+16G>A
XM_011543977.2:c.777+16G>A XP_011542279.1:n.777+16G>A
XM_017029786.1:c.777+16G>A XP_016885275.1:n.777+16G>A
NM_000377.3:c.777+16G>A MANE Select NP_000368.1:n.777+16G>A
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