Canonical Allele Identifier: CA412873082

Gene: WAS

Linked Data

• MyVariant Identifiers: chrX:g.48547158G>C (hg19) ; chrX:g.48688769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688769G>C , CM000685.2:g.48688769G>C	GRCh38
NC_000023.10:g.48547158G>C , CM000685.1:g.48547158G>C	GRCh37
NC_000023.9:g.48432102G>C	NCBI36
NG_007877.1:g.9973G>C , LRG_125:g.9973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.285G>C
ENST00000698625.1:c.1041G>C	ENSP00000513844.1:p.Leu347Phe
ENST00000698626.1:c.1041G>C	ENSP00000513845.1:p.Leu347Phe
ENST00000698635.1:c.1041G>C	ENSP00000513850.1:p.Leu347Phe
ENST00000376701.5:c.1041G>C MANE Select	ENSP00000365891.4:p.Leu347Phe
ENST00000376701.4:c.1041G>C	ENSP00000365891.4:p.Leu347Phe
ENST00000474174.1:n.285G>C
NM_000377.2:c.1041G>C , LRG_125t1:c.1041G>C	NP_000368.1:p.Leu347Phe
XM_011543977.1:c.932-47G>C	XP_011542279.1:n.932-47G>C
XM_011543977.2:c.932-47G>C	XP_011542279.1:n.932-47G>C
XM_017029786.1:c.1041G>C	XP_016885275.1:p.Leu347Phe
NM_000377.3:c.1041G>C MANE Select	NP_000368.1:p.Leu347Phe