Canonical Allele Identifier: CA10404078

Gene: WAS

Linked Data

• dbSNP Id: rs782280376
• ExAC: X:48547489 A / G
• gnomAD v2: X-48547489-A-G
• gnomAD v3: X-48689100-A-G
• gnomAD v4: X-48689100-A-G
• MyVariant Identifiers: chrX:g.48547489A>G (hg19) ; chrX:g.48689100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689100A>G , CM000685.2:g.48689100A>G	GRCh38
NC_000023.10:g.48547489A>G , CM000685.1:g.48547489A>G	GRCh37
NC_000023.9:g.48432433A>G	NCBI36
NG_007877.1:g.10304A>G , LRG_125:g.10304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.582+34A>G
ENST00000698625.1:c.1338+34A>G	ENSP00000513844.1:n.1338+34A>G
ENST00000698626.1:c.1338+34A>G	ENSP00000513845.1:n.1338+34A>G
ENST00000698635.1:c.1338+34A>G	ENSP00000513850.1:n.1338+34A>G
ENST00000376701.5:c.1338+34A>G MANE Select	ENSP00000365891.4:n.1338+34A>G
ENST00000376701.4:c.1338+34A>G	ENSP00000365891.4:n.1338+34A>G
ENST00000470107.1:n.47+34A>G
NM_000377.2:c.1338+34A>G , LRG_125t1:c.1338+34A>G	NP_000368.1:n.1338+34A>G
XM_011543977.1:c.1182+34A>G	XP_011542279.1:n.1182+34A>G
XM_011543977.2:c.1182+34A>G	XP_011542279.1:n.1182+34A>G
XM_017029786.1:c.1338+34A>G	XP_016885275.1:n.1338+34A>G
NM_000377.3:c.1338+34A>G MANE Select	NP_000368.1:n.1338+34A>G