Canonical Allele Identifier: CA516356291

Gene: WAS

Linked Data

• ClinVar Variation Id: 2934849
• ClinVar RCV Id: RCV003798551
• dbSNP Id: rs2062428535
• gnomAD v4: X-48688754-G-A
• MyVariant Identifiers: chrX:g.48547143G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688754G>A , CM000685.2:g.48688754G>A	GRCh38
NC_000023.10:g.48547143G>A , CM000685.1:g.48547143G>A	GRCh37
NC_000023.9:g.48432087G>A	NCBI36
NG_007877.1:g.9958G>A , LRG_125:g.9958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.270G>A
ENST00000698625.1:c.1026G>A	ENSP00000513844.1:p.Leu342=
ENST00000698626.1:c.1026G>A	ENSP00000513845.1:p.Leu342=
ENST00000698635.1:c.1026G>A	ENSP00000513850.1:p.Leu342=
ENST00000376701.5:c.1026G>A MANE Select	ENSP00000365891.4:p.Leu342=
ENST00000376701.4:c.1026G>A	ENSP00000365891.4:p.Leu342=
ENST00000474174.1:n.270G>A
NM_000377.2:c.1026G>A , LRG_125t1:c.1026G>A	NP_000368.1:p.Leu342=
XM_011543977.1:c.932-62G>A	XP_011542279.1:n.932-62G>A
XM_011543977.2:c.932-62G>A	XP_011542279.1:n.932-62G>A
XM_017029786.1:c.1026G>A	XP_016885275.1:p.Leu342=
NM_000377.3:c.1026G>A MANE Select	NP_000368.1:p.Leu342=