Canonical Allele Identifier: CA365351725
Community Standard Title: NM_003931.3(WASF1):c.493A>C (p.Met165Leu)
Gene: WASF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.110107124T>G , CM000668.2:g.110107124T>G GRCh38
NC_000006.11:g.110428327T>G , CM000668.1:g.110428327T>G GRCh37
NC_000006.10:g.110535020T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003931.3:c.493A>C MANE Select NP_003922.1:p.Met165Leu
ENST00000392589.6:c.493A>C MANE Select ENSP00000376368.1:p.Met165Leu
NM_001024934.1:c.493A>C NP_001020105.1:p.Met165Leu
NM_001024934.2:c.493A>C NP_001020105.1:p.Met165Leu
NM_001024935.1:c.493A>C NP_001020106.1:p.Met165Leu
NM_001024935.2:c.493A>C NP_001020106.1:p.Met165Leu
NM_001024936.1:c.493A>C NP_001020107.1:p.Met165Leu
NM_001024936.2:c.493A>C NP_001020107.1:p.Met165Leu
NM_003931.2:c.493A>C NP_003922.1:p.Met165Leu
ENST00000359451.6:c.493A>C ENSP00000352425.2:p.Met165Leu
ENST00000392586.5:c.493A>C ENSP00000376365.1:p.Met165Leu
ENST00000392587.6:c.493A>C ENSP00000376366.2:p.Met165Leu
ENST00000392588.5:c.493A>C ENSP00000376367.1:p.Met165Leu
ENST00000392589.5:c.493A>C ENSP00000376368.1:p.Met165Leu
ENST00000444391.5:c.493A>C ENSP00000407041.1:p.Met165Leu
XM_005267203.3:c.493A>C XP_005267260.1:p.Met165Leu
XM_005267204.2:c.493A>C XP_005267261.1:p.Met165Leu
XM_005267205.2:c.493A>C XP_005267262.1:p.Met165Leu
XM_005267206.2:c.493A>C XP_005267263.1:p.Met165Leu
XM_005267207.2:c.493A>C XP_005267264.1:p.Met165Leu
XM_011536233.1:c.493A>C XP_011534535.1:p.Met165Leu
XM_011536234.1:c.493A>C XP_011534536.1:p.Met165Leu
XM_011536235.1:c.493A>C XP_011534537.1:p.Met165Leu