Canonical Allele Identifier: CA2428354125
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs2062409755
gnomAD v4: X-48683763-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48683763C>T , CM000685.2:g.48683763C>T GRCh38
NC_000023.10:g.48542152C>T , CM000685.1:g.48542152C>T GRCh37
NC_000023.9:g.48427096C>T NCBI36
NG_007877.1:g.4967C>T , LRG_125:g.4967C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-57C>T ENSP00000513844.1:n.-34-57C>T
ENST00000450772.5:c.-34-57C>T ENSP00000410537.1:n.-34-57C>T
XM_017029786.1:c.-91C>T XP_016885275.1:n.-91C>T