Canonical Allele Identifier: CA412873111
Gene: WAS HGNC NCBI

Linked Data

gnomAD v4: X-48688776-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688776G>T , CM000685.2:g.48688776G>T GRCh38
NC_000023.10:g.48547165G>T , CM000685.1:g.48547165G>T GRCh37
NC_000023.9:g.48432109G>T NCBI36
NG_007877.1:g.9980G>T , LRG_125:g.9980G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.292G>T
ENST00000698625.1:c.1048G>T ENSP00000513844.1:p.Ala350Ser
ENST00000698626.1:c.1048G>T ENSP00000513845.1:p.Ala350Ser
ENST00000698635.1:c.1048G>T ENSP00000513850.1:p.Ala350Ser
ENST00000376701.5:c.1048G>T MANE Select ENSP00000365891.4:p.Ala350Ser
ENST00000376701.4:c.1048G>T ENSP00000365891.4:p.Ala350Ser
ENST00000474174.1:n.292G>T
NM_000377.2:c.1048G>T , LRG_125t1:c.1048G>T NP_000368.1:p.Ala350Ser
XM_011543977.1:c.932-40G>T XP_011542279.1:n.932-40G>T
XM_011543977.2:c.932-40G>T XP_011542279.1:n.932-40G>T
XM_017029786.1:c.1048G>T XP_016885275.1:p.Ala350Ser
NM_000377.3:c.1048G>T MANE Select NP_000368.1:p.Ala350Ser