Canonical Allele Identifier: CA2693643884
Gene: WAS HGNC NCBI

Linked Data

gnomAD v4: X-48688010-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688010G>C , CM000685.2:g.48688010G>C GRCh38
NC_000023.10:g.48546399G>C , CM000685.1:g.48546399G>C GRCh37
NC_000023.9:g.48431343G>C NCBI36
NG_007877.1:g.9214G>C , LRG_125:g.9214G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000483750.6:n.768-44G>C
ENST00000490627.2:n.172-44G>C
ENST00000698625.1:c.735-44G>C ENSP00000513844.1:n.735-44G>C
ENST00000698626.1:c.735-44G>C ENSP00000513845.1:n.735-44G>C
ENST00000698635.1:c.735-44G>C ENSP00000513850.1:n.735-44G>C
ENST00000376701.5:c.735-44G>C MANE Select ENSP00000365891.4:n.735-44G>C
ENST00000376701.4:c.735-44G>C ENSP00000365891.4:n.735-44G>C
ENST00000465982.5:n.635-44G>C
ENST00000483750.5:n.761-44G>C
ENST00000490627.1:n.155-44G>C
NM_000377.2:c.735-44G>C , LRG_125t1:c.735-44G>C NP_000368.1:n.735-44G>C
XM_011543977.1:c.735-44G>C XP_011542279.1:n.735-44G>C
XM_011543977.2:c.735-44G>C XP_011542279.1:n.735-44G>C
XM_017029786.1:c.735-44G>C XP_016885275.1:n.735-44G>C
NM_000377.3:c.735-44G>C MANE Select NP_000368.1:n.735-44G>C