Canonical Allele Identifier: CA2428355775
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688972T= , CM000685.2:g.48688972T= GRCh38
NC_000023.10:g.48547361T= , CM000685.1:g.48547361T= GRCh37
NC_000023.9:g.48432305T= NCBI36
NG_007877.1:g.10176T= , LRG_125:g.10176T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.488T=
ENST00000698625.1:c.1244T= ENSP00000513844.1:p.Leu415=
ENST00000698626.1:c.1244T= ENSP00000513845.1:p.Leu415=
ENST00000698635.1:c.1244T= ENSP00000513850.1:p.Leu415=
ENST00000376701.5:c.1244T= MANE Select ENSP00000365891.4:p.Leu415=
ENST00000376701.4:c.1244T= ENSP00000365891.4:p.Leu415=
ENST00000474174.1:n.488T=
NM_000377.2:c.1244T= , LRG_125t1:c.1244T= NP_000368.1:p.Leu415=
XM_011543977.1:c.1088T= XP_011542279.1:p.Leu363=
XM_011543977.2:c.1088T= XP_011542279.1:p.Leu363=
XM_017029786.1:c.1244T= XP_016885275.1:p.Leu415=
NM_000377.3:c.1244T= MANE Select NP_000368.1:p.Leu415=