Canonical Allele Identifier: CA372192502
Community Standard Title: NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125061129T>G , CM000670.2:g.125061129T>G GRCh38
NC_000008.10:g.126073371T>G , CM000670.1:g.126073371T>G GRCh37
NC_000008.9:g.126142553T>G NCBI36
NG_012636.1:g.35691A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.1474A>C MANE Select NP_055661.3:p.Thr492Pro
ENST00000318410.12:c.1474A>C MANE Select ENSP00000318016.7:p.Thr492Pro
NM_001330609.1:c.1030A>C NP_001317538.1:p.Thr344Pro
NM_001330609.2:c.1030A>C NP_001317538.1:p.Thr344Pro
NM_014846.3:c.1474A>C NP_055661.3:p.Thr492Pro
ENST00000318410.11:c.1474A>C ENSP00000318016.7:p.Thr492Pro
ENST00000517845.5:c.1030A>C ENSP00000429676.1:p.Thr344Pro
XM_005251120.2:c.1030A>C XP_005251177.1:p.Thr344Pro
XM_011517409.1:c.1474A>C XP_011515711.1:p.Thr492Pro
XM_011517410.1:c.1474A>C XP_011515712.1:p.Thr492Pro
XM_017014113.2:c.1474A>C XP_016869602.1:p.Thr492Pro