Canonical Allele Identifier: CA516024024

Gene: WAS

Linked Data

• dbSNP Id: rs2062432822
• gnomAD v3: X-48689433-C-T
• gnomAD v4: X-48689433-C-T
• COSMIC: COSM3844848
• MyVariant Identifiers: chrX:g.48547822C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689433C>T , CM000685.2:g.48689433C>T	GRCh38
NC_000023.10:g.48547822C>T , CM000685.1:g.48547822C>T	GRCh37
NC_000023.9:g.48432766C>T	NCBI36
NG_007877.1:g.10637C>T , LRG_125:g.10637C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698625.1:c.1452C>T	ENSP00000513844.1:p.Ser484=
ENST00000698626.1:c.1452C>T	ENSP00000513845.1:p.Ser484=
ENST00000698635.1:c.1452C>T	ENSP00000513850.1:p.Ser484=
ENST00000376701.5:c.1452C>T MANE Select	ENSP00000365891.4:p.Ser484=
ENST00000376701.4:c.1452C>T	ENSP00000365891.4:p.Ser484=
ENST00000470107.1:n.161C>T
NM_000377.2:c.1452C>T , LRG_125t1:c.1452C>T	NP_000368.1:p.Ser484=
XM_011543977.1:c.1296C>T	XP_011542279.1:p.Ser432=
XM_011543977.2:c.1296C>T	XP_011542279.1:p.Ser432=
XM_017029786.1:c.1452C>T	XP_016885275.1:p.Ser484=
NM_000377.3:c.1452C>T MANE Select	NP_000368.1:p.Ser484=