Canonical Allele Identifier: CA516356247

Gene: WAS

Linked Data

• gnomAD v3: X-48688730-T-G
• gnomAD v4: X-48688730-T-G
• MyVariant Identifiers: chrX:g.48547119T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688730T>G , CM000685.2:g.48688730T>G	GRCh38
NC_000023.10:g.48547119T>G , CM000685.1:g.48547119T>G	GRCh37
NC_000023.9:g.48432063T>G	NCBI36
NG_007877.1:g.9934T>G , LRG_125:g.9934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.246T>G
ENST00000698625.1:c.1002T>G	ENSP00000513844.1:p.Gly334=
ENST00000698626.1:c.1002T>G	ENSP00000513845.1:p.Gly334=
ENST00000698635.1:c.1002T>G	ENSP00000513850.1:p.Gly334=
ENST00000376701.5:c.1002T>G MANE Select	ENSP00000365891.4:p.Gly334=
ENST00000376701.4:c.1002T>G	ENSP00000365891.4:p.Gly334=
ENST00000474174.1:n.246T>G
NM_000377.2:c.1002T>G , LRG_125t1:c.1002T>G	NP_000368.1:p.Gly334=
XM_011543977.1:c.932-86T>G	XP_011542279.1:n.932-86T>G
XM_011543977.2:c.932-86T>G	XP_011542279.1:n.932-86T>G
XM_017029786.1:c.1002T>G	XP_016885275.1:p.Gly334=
NM_000377.3:c.1002T>G MANE Select	NP_000368.1:p.Gly334=