Canonical Allele Identifier: CA412872096

Gene: WAS

Linked Data

• gnomAD v4: X-48688079-C-T
• MyVariant Identifiers: chrX:g.48546468C>T (hg19) ; chrX:g.48688079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688079C>T , CM000685.2:g.48688079C>T	GRCh38
NC_000023.10:g.48546468C>T , CM000685.1:g.48546468C>T	GRCh37
NC_000023.9:g.48431412C>T	NCBI36
NG_007877.1:g.9283C>T , LRG_125:g.9283C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.793C>T
ENST00000490627.2:n.197C>T
ENST00000698625.1:c.760C>T	ENSP00000513844.1:p.Pro254Ser
ENST00000698626.1:c.760C>T	ENSP00000513845.1:p.Pro254Ser
ENST00000698635.1:c.760C>T	ENSP00000513850.1:p.Pro254Ser
ENST00000376701.5:c.760C>T MANE Select	ENSP00000365891.4:p.Pro254Ser
ENST00000376701.4:c.760C>T	ENSP00000365891.4:p.Pro254Ser
ENST00000465982.5:n.660C>T
ENST00000483750.5:n.786C>T
ENST00000490627.1:n.180C>T
NM_000377.2:c.760C>T , LRG_125t1:c.760C>T	NP_000368.1:p.Pro254Ser
XM_011543977.1:c.760C>T	XP_011542279.1:p.Pro254Ser
XM_011543977.2:c.760C>T	XP_011542279.1:p.Pro254Ser
XM_017029786.1:c.760C>T	XP_016885275.1:p.Pro254Ser
NM_000377.3:c.760C>T MANE Select	NP_000368.1:p.Pro254Ser