Canonical Allele Identifier: CA2693642830
Gene: WAS HGNC NCBI

Linked Data

gnomAD v4: X-48683808-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48683808C>A , CM000685.2:g.48683808C>A GRCh38
NC_000023.10:g.48542197C>A , CM000685.1:g.48542197C>A GRCh37
NC_000023.9:g.48427141C>A NCBI36
NG_007877.1:g.5012C>A , LRG_125:g.5012C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-12C>A ENSP00000513844.1:n.-34-12C>A
ENST00000698635.1:c.-46C>A ENSP00000513850.1:n.-46C>A
ENST00000376701.5:c.-46C>A MANE Select ENSP00000365891.4:n.-46C>A
ENST00000376701.4:c.-46C>A ENSP00000365891.4:n.-46C>A
ENST00000450772.5:c.-34-12C>A ENSP00000410537.1:n.-34-12C>A
NM_000377.2:c.-46C>A , LRG_125t1:c.-46C>A NP_000368.1:n.-46C>A
XM_011543977.1:c.-46C>A XP_011542279.1:n.-46C>A
XM_011543977.2:c.-46C>A XP_011542279.1:n.-46C>A
XM_017029786.1:c.-46C>A XP_016885275.1:n.-46C>A
NM_000377.3:c.-46C>A MANE Select NP_000368.1:n.-46C>A