Canonical Allele Identifier: CA516356503
Gene: WAS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48547407T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689018T>G , CM000685.2:g.48689018T>G GRCh38
NC_000023.10:g.48547407T>G , CM000685.1:g.48547407T>G GRCh37
NC_000023.9:g.48432351T>G NCBI36
NG_007877.1:g.10222T>G , LRG_125:g.10222T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.534T>G
ENST00000698625.1:c.1290T>G ENSP00000513844.1:p.Gly430=
ENST00000698626.1:c.1290T>G ENSP00000513845.1:p.Gly430=
ENST00000698635.1:c.1290T>G ENSP00000513850.1:p.Gly430=
ENST00000376701.5:c.1290T>G MANE Select ENSP00000365891.4:p.Gly430=
ENST00000376701.4:c.1290T>G ENSP00000365891.4:p.Gly430=
NM_000377.2:c.1290T>G , LRG_125t1:c.1290T>G NP_000368.1:p.Gly430=
XM_011543977.1:c.1134T>G XP_011542279.1:p.Gly378=
XM_011543977.2:c.1134T>G XP_011542279.1:p.Gly378=
XM_017029786.1:c.1290T>G XP_016885275.1:p.Gly430=
NM_000377.3:c.1290T>G MANE Select NP_000368.1:p.Gly430=