Canonical Allele Identifier: CA10403978

Gene: WAS

Linked Data

• ClinVar Variation Id: 2922606
• ClinVar RCV Id: RCV003787772
• dbSNP Id: rs781809829
• ExAC: X:48546455 C / T
• gnomAD v2: X-48546455-C-T
• gnomAD v3: X-48688066-C-T
• gnomAD v4: X-48688066-C-T
• MyVariant Identifiers: chrX:g.48546455C>T (hg19) ; chrX:g.48688066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688066C>T , CM000685.2:g.48688066C>T	GRCh38
NC_000023.10:g.48546455C>T , CM000685.1:g.48546455C>T	GRCh37
NC_000023.9:g.48431399C>T	NCBI36
NG_007877.1:g.9270C>T , LRG_125:g.9270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.780C>T
ENST00000490627.2:n.184C>T
ENST00000698625.1:c.747C>T	ENSP00000513844.1:p.His249=
ENST00000698626.1:c.747C>T	ENSP00000513845.1:p.His249=
ENST00000698635.1:c.747C>T	ENSP00000513850.1:p.His249=
ENST00000376701.5:c.747C>T MANE Select	ENSP00000365891.4:p.His249=
ENST00000376701.4:c.747C>T	ENSP00000365891.4:p.His249=
ENST00000465982.5:n.647C>T
ENST00000483750.5:n.773C>T
ENST00000490627.1:n.167C>T
NM_000377.2:c.747C>T , LRG_125t1:c.747C>T	NP_000368.1:p.His249=
XM_011543977.1:c.747C>T	XP_011542279.1:p.His249=
XM_011543977.2:c.747C>T	XP_011542279.1:p.His249=
XM_017029786.1:c.747C>T	XP_016885275.1:p.His249=
NM_000377.3:c.747C>T MANE Select	NP_000368.1:p.His249=