Canonical Allele Identifier: CA516356234
Gene: WAS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48547236A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688847A>T , CM000685.2:g.48688847A>T GRCh38
NC_000023.10:g.48547236A>T , CM000685.1:g.48547236A>T GRCh37
NC_000023.9:g.48432180A>T NCBI36
NG_007877.1:g.10051A>T , LRG_125:g.10051A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.363A>T
ENST00000698625.1:c.1119A>T ENSP00000513844.1:p.Pro373=
ENST00000698626.1:c.1119A>T ENSP00000513845.1:p.Pro373=
ENST00000698635.1:c.1119A>T ENSP00000513850.1:p.Pro373=
ENST00000376701.5:c.1119A>T MANE Select ENSP00000365891.4:p.Pro373=
ENST00000376701.4:c.1119A>T ENSP00000365891.4:p.Pro373=
ENST00000474174.1:n.363A>T
NM_000377.2:c.1119A>T , LRG_125t1:c.1119A>T NP_000368.1:p.Pro373=
XM_011543977.1:c.963A>T XP_011542279.1:p.Pro321=
XM_011543977.2:c.963A>T XP_011542279.1:p.Pro321=
XM_017029786.1:c.1119A>T XP_016885275.1:p.Pro373=
NM_000377.3:c.1119A>T MANE Select NP_000368.1:p.Pro373=