Canonical Allele Identifier: CA412874027
Gene: WAS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48547823G>C (hg19) chrX:g.48689434G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689434G>C , CM000685.2:g.48689434G>C GRCh38
NC_000023.10:g.48547823G>C , CM000685.1:g.48547823G>C GRCh37
NC_000023.9:g.48432767G>C NCBI36
NG_007877.1:g.10638G>C , LRG_125:g.10638G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.1453G>C ENSP00000513844.1:p.Asp485His
ENST00000698626.1:c.1453G>C ENSP00000513845.1:p.Gly485Arg
ENST00000698635.1:c.1453G>C ENSP00000513850.1:p.Gly485Arg
ENST00000376701.5:c.1453G>C MANE Select ENSP00000365891.4:p.Asp485His
ENST00000376701.4:c.1453G>C ENSP00000365891.4:p.Asp485His
ENST00000470107.1:n.162G>C
NM_000377.2:c.1453G>C , LRG_125t1:c.1453G>C NP_000368.1:p.Asp485His
XM_011543977.1:c.1297G>C XP_011542279.1:p.Asp433His
XM_011543977.2:c.1297G>C XP_011542279.1:p.Asp433His
XM_017029786.1:c.1453G>C XP_016885275.1:p.Gly485Arg
NM_000377.3:c.1453G>C MANE Select NP_000368.1:p.Asp485His
Search 100 bp 5'
Search 100 bp 3'