Canonical Allele Identifier: CA412873215
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1010931
ClinVar RCV Id: RCV001308651
dbSNP Id: rs2062428888
gnomAD v3: X-48688803-C-T
gnomAD v4: X-48688803-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688803C>T , CM000685.2:g.48688803C>T GRCh38
NC_000023.10:g.48547192C>T , CM000685.1:g.48547192C>T GRCh37
NC_000023.9:g.48432136C>T NCBI36
NG_007877.1:g.10007C>T , LRG_125:g.10007C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.319C>T
ENST00000698625.1:c.1075C>T ENSP00000513844.1:p.Pro359Ser
ENST00000698626.1:c.1075C>T ENSP00000513845.1:p.Pro359Ser
ENST00000698635.1:c.1075C>T ENSP00000513850.1:p.Pro359Ser
ENST00000376701.5:c.1075C>T MANE Select ENSP00000365891.4:p.Pro359Ser
ENST00000376701.4:c.1075C>T ENSP00000365891.4:p.Pro359Ser
ENST00000474174.1:n.319C>T
NM_000377.2:c.1075C>T , LRG_125t1:c.1075C>T NP_000368.1:p.Pro359Ser
XM_011543977.1:c.932-13C>T XP_011542279.1:n.932-13C>T
XM_011543977.2:c.932-13C>T XP_011542279.1:n.932-13C>T
XM_017029786.1:c.1075C>T XP_016885275.1:p.Pro359Ser
NM_000377.3:c.1075C>T MANE Select NP_000368.1:p.Pro359Ser