Canonical Allele Identifier: CA10403824

Gene: WAS

Linked Data

• dbSNP Id: rs781801746
• ExAC: X:48542215 G / A
• gnomAD v2: X-48542215-G-A
• gnomAD v3: X-48683826-G-A
• gnomAD v4: X-48683826-G-A
• MyVariant Identifiers: chrX:g.48542215G>A (hg19) ; chrX:g.48683826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683826G>A , CM000685.2:g.48683826G>A	GRCh38
NC_000023.10:g.48542215G>A , CM000685.1:g.48542215G>A	GRCh37
NC_000023.9:g.48427159G>A	NCBI36
NG_007877.1:g.5030G>A , LRG_125:g.5030G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.6G>A
ENST00000698625.1:c.-28G>A	ENSP00000513844.1:n.-28G>A
ENST00000698635.1:c.-28G>A	ENSP00000513850.1:n.-28G>A
ENST00000376701.5:c.-28G>A MANE Select	ENSP00000365891.4:n.-28G>A
ENST00000376701.4:c.-28G>A	ENSP00000365891.4:n.-28G>A
ENST00000450772.5:c.-28G>A	ENSP00000410537.1:n.-28G>A
ENST00000465982.5:n.8G>A
NM_000377.2:c.-28G>A , LRG_125t1:c.-28G>A	NP_000368.1:n.-28G>A
XM_011543977.1:c.-28G>A	XP_011542279.1:n.-28G>A
XM_011543977.2:c.-28G>A	XP_011542279.1:n.-28G>A
XM_017029786.1:c.-28G>A	XP_016885275.1:n.-28G>A
NM_000377.3:c.-28G>A MANE Select	NP_000368.1:n.-28G>A