Canonical Allele Identifier: CA516356511

Gene: WAS

Linked Data

• ClinVar Variation Id: 2150897
• ClinVar RCV Id: RCV003067800
• gnomAD v4: X-48689027-G-T
• MyVariant Identifiers: chrX:g.48547416G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689027G>T , CM000685.2:g.48689027G>T	GRCh38
NC_000023.10:g.48547416G>T , CM000685.1:g.48547416G>T	GRCh37
NC_000023.9:g.48432360G>T	NCBI36
NG_007877.1:g.10231G>T , LRG_125:g.10231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.543G>T
ENST00000698625.1:c.1299G>T	ENSP00000513844.1:p.Ala433=
ENST00000698626.1:c.1299G>T	ENSP00000513845.1:p.Ala433=
ENST00000698635.1:c.1299G>T	ENSP00000513850.1:p.Ala433=
ENST00000376701.5:c.1299G>T MANE Select	ENSP00000365891.4:p.Ala433=
ENST00000376701.4:c.1299G>T	ENSP00000365891.4:p.Ala433=
ENST00000470107.1:n.8G>T
NM_000377.2:c.1299G>T , LRG_125t1:c.1299G>T	NP_000368.1:p.Ala433=
XM_011543977.1:c.1143G>T	XP_011542279.1:p.Ala381=
XM_011543977.2:c.1143G>T	XP_011542279.1:p.Ala381=
XM_017029786.1:c.1299G>T	XP_016885275.1:p.Ala433=
NM_000377.3:c.1299G>T MANE Select	NP_000368.1:p.Ala433=