Canonical Allele Identifier: CA412873383

Gene: WAS

Linked Data

• MyVariant Identifiers: chrX:g.48547265C>G (hg19) ; chrX:g.48688876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688876C>G , CM000685.2:g.48688876C>G	GRCh38
NC_000023.10:g.48547265C>G , CM000685.1:g.48547265C>G	GRCh37
NC_000023.9:g.48432209C>G	NCBI36
NG_007877.1:g.10080C>G , LRG_125:g.10080C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.392C>G
ENST00000698625.1:c.1148C>G	ENSP00000513844.1:p.Pro383Arg
ENST00000698626.1:c.1148C>G	ENSP00000513845.1:p.Pro383Arg
ENST00000698635.1:c.1148C>G	ENSP00000513850.1:p.Pro383Arg
ENST00000376701.5:c.1148C>G MANE Select	ENSP00000365891.4:p.Pro383Arg
ENST00000376701.4:c.1148C>G	ENSP00000365891.4:p.Pro383Arg
ENST00000474174.1:n.392C>G
NM_000377.2:c.1148C>G , LRG_125t1:c.1148C>G	NP_000368.1:p.Pro383Arg
XM_011543977.1:c.992C>G	XP_011542279.1:p.Pro331Arg
XM_011543977.2:c.992C>G	XP_011542279.1:p.Pro331Arg
XM_017029786.1:c.1148C>G	XP_016885275.1:p.Pro383Arg
NM_000377.3:c.1148C>G MANE Select	NP_000368.1:p.Pro383Arg