Canonical Allele Identifier: CA412872377
Gene: WAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688402A>C , CM000685.2:g.48688402A>C GRCh38
NC_000023.10:g.48546791A>C , CM000685.1:g.48546791A>C GRCh37
NC_000023.9:g.48431735A>C NCBI36
NG_007877.1:g.9606A>C , LRG_125:g.9606A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.124A>C
ENST00000698625.1:c.880A>C ENSP00000513844.1:p.Ile294Leu
ENST00000698626.1:c.880A>C ENSP00000513845.1:p.Ile294Leu
ENST00000698635.1:c.880A>C ENSP00000513850.1:p.Ile294Leu
ENST00000376701.5:c.880A>C MANE Select ENSP00000365891.4:p.Ile294Leu
ENST00000376701.4:c.880A>C ENSP00000365891.4:p.Ile294Leu
ENST00000474174.1:n.124A>C
NM_000377.2:c.880A>C , LRG_125t1:c.880A>C NP_000368.1:p.Ile294Leu
XM_011543977.1:c.880A>C XP_011542279.1:p.Ile294Leu
XM_011543977.2:c.880A>C XP_011542279.1:p.Ile294Leu
XM_017029786.1:c.880A>C XP_016885275.1:p.Ile294Leu
NM_000377.3:c.880A>C MANE Select NP_000368.1:p.Ile294Leu