Canonical Allele Identifier: CA2693643103
Gene: WAS HGNC NCBI

Linked Data

gnomAD v4: X-48685540-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48685540T>A , CM000685.2:g.48685540T>A GRCh38
NC_000023.10:g.48543929T>A , CM000685.1:g.48543929T>A GRCh37
NC_000023.9:g.48428873T>A NCBI36
NG_007877.1:g.6744T>A , LRG_125:g.6744T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000483750.6:n.307-7T>A
ENST00000698625.1:c.274-7T>A ENSP00000513844.1:n.274-7T>A
ENST00000698626.1:c.274-7T>A ENSP00000513845.1:n.274-7T>A
ENST00000698635.1:c.274-7T>A ENSP00000513850.1:n.274-7T>A
ENST00000376701.5:c.274-7T>A MANE Select ENSP00000365891.4:n.274-7T>A
ENST00000376701.4:c.274-7T>A ENSP00000365891.4:n.274-7T>A
ENST00000450772.5:c.274-7T>A ENSP00000410537.1:n.274-7T>A
ENST00000465982.5:n.309-7T>A
ENST00000483750.5:n.300-7T>A
NM_000377.2:c.274-7T>A , LRG_125t1:c.274-7T>A NP_000368.1:n.274-7T>A
XM_011543977.1:c.274-7T>A XP_011542279.1:n.274-7T>A
XM_011543977.2:c.274-7T>A XP_011542279.1:n.274-7T>A
XM_017029786.1:c.274-7T>A XP_016885275.1:n.274-7T>A
NM_000377.3:c.274-7T>A MANE Select NP_000368.1:n.274-7T>A