Canonical Allele Identifier: CA329099093
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs980744292
MyVariant Identifiers: chrX:g.48681729T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681729T>C , CM000685.2:g.48681729T>C GRCh38
NC_000023.10:g.48540118T>C , CM000685.1:g.48540118T>C GRCh37
NC_000023.9:g.48425062T>C NCBI36
NG_007877.1:g.2933T>C , LRG_125:g.2933T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-2091T>C ENSP00000513844.1:n.-34-2091T>C
ENST00000450772.5:c.-130-1539T>C ENSP00000410537.1:n.-130-1539T>C