Canonical Allele Identifier: CA16621420
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 418541
ClinVar RCV Id: RCV000482823 RCV000780796 RCV001038563
dbSNP Id: rs1064793293
MyVariant Identifiers: chrX:g.48547823G>A (hg19) chrX:g.48689434G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.1453G>A ENSP00000513844.1:p.Asp485Asn
ENST00000698626.1:c.1453G>A ENSP00000513845.1:p.Gly485Arg
ENST00000698635.1:c.1453G>A ENSP00000513850.1:p.Gly485Arg
ENST00000376701.5:c.1453G>A MANE Select ENSP00000365891.4:p.Asp485Asn
ENST00000376701.4:c.1453G>A ENSP00000365891.4:p.Asp485Asn
ENST00000470107.1:n.162G>A
NM_000377.2:c.1453G>A , LRG_125t1:c.1453G>A NP_000368.1:p.Asp485Asn
XM_011543977.1:c.1297G>A XP_011542279.1:p.Asp433Asn
XM_011543977.2:c.1297G>A XP_011542279.1:p.Asp433Asn
XM_017029786.1:c.1453G>A XP_016885275.1:p.Gly485Arg
NM_000377.3:c.1453G>A MANE Select NP_000368.1:p.Asp485Asn
Search 100 bp 5'
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