Canonical Allele Identifier: CA412872039

Gene: WAS

Linked Data

• gnomAD v4: X-48688056-A-T
• MyVariant Identifiers: chrX:g.48546445A>T (hg19) ; chrX:g.48688056A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688056A>T , CM000685.2:g.48688056A>T	GRCh38
NC_000023.10:g.48546445A>T , CM000685.1:g.48546445A>T	GRCh37
NC_000023.9:g.48431389A>T	NCBI36
NG_007877.1:g.9260A>T , LRG_125:g.9260A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.770A>T
ENST00000490627.2:n.174A>T
ENST00000698625.1:c.737A>T	ENSP00000513844.1:p.His246Leu
ENST00000698626.1:c.737A>T	ENSP00000513845.1:p.His246Leu
ENST00000698635.1:c.737A>T	ENSP00000513850.1:p.His246Leu
ENST00000376701.5:c.737A>T MANE Select	ENSP00000365891.4:p.His246Leu
ENST00000376701.4:c.737A>T	ENSP00000365891.4:p.His246Leu
ENST00000465982.5:n.637A>T
ENST00000483750.5:n.763A>T
ENST00000490627.1:n.157A>T
NM_000377.2:c.737A>T , LRG_125t1:c.737A>T	NP_000368.1:p.His246Leu
XM_011543977.1:c.737A>T	XP_011542279.1:p.His246Leu
XM_011543977.2:c.737A>T	XP_011542279.1:p.His246Leu
XM_017029786.1:c.737A>T	XP_016885275.1:p.His246Leu
NM_000377.3:c.737A>T MANE Select	NP_000368.1:p.His246Leu