Canonical Allele Identifier: CA875917495
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs1452635175
MyVariant Identifiers: chrX:g.48689174A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689174A>G , CM000685.2:g.48689174A>G GRCh38
NC_000023.10:g.48547563A>G , CM000685.1:g.48547563A>G GRCh37
NC_000023.9:g.48432507A>G NCBI36
NG_007877.1:g.10378A>G , LRG_125:g.10378A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.582+108A>G
ENST00000698625.1:c.1338+108A>G ENSP00000513844.1:n.1338+108A>G
ENST00000698626.1:c.1338+108A>G ENSP00000513845.1:n.1338+108A>G
ENST00000698635.1:c.1338+108A>G ENSP00000513850.1:n.1338+108A>G
ENST00000376701.5:c.1338+108A>G MANE Select ENSP00000365891.4:n.1338+108A>G
ENST00000376701.4:c.1338+108A>G ENSP00000365891.4:n.1338+108A>G
ENST00000470107.1:n.47+108A>G
NM_000377.2:c.1338+108A>G , LRG_125t1:c.1338+108A>G NP_000368.1:n.1338+108A>G
XM_011543977.1:c.1182+108A>G XP_011542279.1:n.1182+108A>G
XM_011543977.2:c.1182+108A>G XP_011542279.1:n.1182+108A>G
XM_017029786.1:c.1338+108A>G XP_016885275.1:n.1338+108A>G
NM_000377.3:c.1338+108A>G MANE Select NP_000368.1:n.1338+108A>G