Canonical Allele Identifier: CA4873932
Community Standard Title: NM_014846.4(WASHC5):c.1120C>T (p.Arg374Ter)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125073183G>A , CM000670.2:g.125073183G>A GRCh38
NC_000008.10:g.126085425G>A , CM000670.1:g.126085425G>A GRCh37
NC_000008.9:g.126154607G>A NCBI36
NG_012636.1:g.23637C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.1120C>T MANE Select NP_055661.3:p.Arg374Ter
ENST00000318410.12:c.1120C>T MANE Select ENSP00000318016.7:p.Arg374Ter
NM_001330609.1:c.676C>T NP_001317538.1:p.Arg226Ter
NM_001330609.2:c.676C>T NP_001317538.1:p.Arg226Ter
NM_014846.3:c.1120C>T NP_055661.3:p.Arg374Ter
ENST00000318410.11:c.1120C>T ENSP00000318016.7:p.Arg374Ter
ENST00000517845.5:c.676C>T ENSP00000429676.1:p.Arg226Ter
XM_005251120.2:c.676C>T XP_005251177.1:p.Arg226Ter
XM_011517409.1:c.1120C>T XP_011515711.1:p.Arg374Ter
XM_011517410.1:c.1120C>T XP_011515712.1:p.Arg374Ter
XM_017014113.2:c.1120C>T XP_016869602.1:p.Arg374Ter