Canonical Allele Identifier: CA516021811
Gene: WAS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48542284A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48683895A>C , CM000685.2:g.48683895A>C GRCh38
NC_000023.10:g.48542284A>C , CM000685.1:g.48542284A>C GRCh37
NC_000023.9:g.48427228A>C NCBI36
NG_007877.1:g.5099A>C , LRG_125:g.5099A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000483750.6:n.75A>C
ENST00000698625.1:c.42A>C ENSP00000513844.1:p.Gly14=
ENST00000698626.1:c.42A>C ENSP00000513845.1:p.Gly14=
ENST00000698635.1:c.42A>C ENSP00000513850.1:p.Gly14=
ENST00000376701.5:c.42A>C MANE Select ENSP00000365891.4:p.Gly14=
ENST00000376701.4:c.42A>C ENSP00000365891.4:p.Gly14=
ENST00000450772.5:c.42A>C ENSP00000410537.1:p.Gly14=
ENST00000465982.5:n.77A>C
ENST00000483750.5:n.68A>C
NM_000377.2:c.42A>C , LRG_125t1:c.42A>C NP_000368.1:p.Gly14=
XM_011543977.1:c.42A>C XP_011542279.1:p.Gly14=
XM_011543977.2:c.42A>C XP_011542279.1:p.Gly14=
XM_017029786.1:c.42A>C XP_016885275.1:p.Gly14=
NM_000377.3:c.42A>C MANE Select NP_000368.1:p.Gly14=