Canonical Allele Identifier: CA329102334
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 844565
ClinVar RCV Id: RCV001047443
dbSNP Id: rs1043747875
gnomAD v4: X-48688902-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688902C>A , CM000685.2:g.48688902C>A GRCh38
NC_000023.10:g.48547291C>A , CM000685.1:g.48547291C>A GRCh37
NC_000023.9:g.48432235C>A NCBI36
NG_007877.1:g.10106C>A , LRG_125:g.10106C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.418C>A
ENST00000698625.1:c.1174C>A ENSP00000513844.1:p.Pro392Thr
ENST00000698626.1:c.1174C>A ENSP00000513845.1:p.Pro392Thr
ENST00000698635.1:c.1174C>A ENSP00000513850.1:p.Pro392Thr
ENST00000376701.5:c.1174C>A MANE Select ENSP00000365891.4:p.Pro392Thr
ENST00000376701.4:c.1174C>A ENSP00000365891.4:p.Pro392Thr
ENST00000474174.1:n.418C>A
NM_000377.2:c.1174C>A , LRG_125t1:c.1174C>A NP_000368.1:p.Pro392Thr
XM_011543977.1:c.1018C>A XP_011542279.1:p.Pro340Thr
XM_011543977.2:c.1018C>A XP_011542279.1:p.Pro340Thr
XM_017029786.1:c.1174C>A XP_016885275.1:p.Pro392Thr
NM_000377.3:c.1174C>A MANE Select NP_000368.1:p.Pro392Thr