Canonical Allele Identifier: CA1132960283
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs2062409908
gnomAD v3: X-48683811-T-G
gnomAD v4: X-48683811-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48683811T>G , CM000685.2:g.48683811T>G GRCh38
NC_000023.10:g.48542200T>G , CM000685.1:g.48542200T>G GRCh37
NC_000023.9:g.48427144T>G NCBI36
NG_007877.1:g.5015T>G , LRG_125:g.5015T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-9T>G ENSP00000513844.1:n.-34-9T>G
ENST00000698635.1:c.-43T>G ENSP00000513850.1:n.-43T>G
ENST00000376701.5:c.-43T>G MANE Select ENSP00000365891.4:n.-43T>G
ENST00000376701.4:c.-43T>G ENSP00000365891.4:n.-43T>G
ENST00000450772.5:c.-34-9T>G ENSP00000410537.1:n.-34-9T>G
NM_000377.2:c.-43T>G , LRG_125t1:c.-43T>G NP_000368.1:n.-43T>G
XM_011543977.1:c.-43T>G XP_011542279.1:n.-43T>G
XM_011543977.2:c.-43T>G XP_011542279.1:n.-43T>G
XM_017029786.1:c.-43T>G XP_016885275.1:n.-43T>G
NM_000377.3:c.-43T>G MANE Select NP_000368.1:n.-43T>G