Canonical Allele Identifier: CA4874051
Community Standard Title: NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125078767G>A , CM000670.2:g.125078767G>A GRCh38
NC_000008.10:g.126091009G>A , CM000670.1:g.126091009G>A GRCh37
NC_000008.9:g.126160191G>A NCBI36
NG_012636.1:g.18053C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.682C>T MANE Select NP_055661.3:p.Arg228Ter
ENST00000318410.12:c.682C>T MANE Select ENSP00000318016.7:p.Arg228Ter
NM_001330609.1:c.238C>T NP_001317538.1:p.Arg80Ter
NM_001330609.2:c.238C>T NP_001317538.1:p.Arg80Ter
NM_014846.3:c.682C>T NP_055661.3:p.Arg228Ter
ENST00000318410.11:c.682C>T ENSP00000318016.7:p.Arg228Ter
ENST00000517845.5:c.238C>T ENSP00000429676.1:p.Arg80Ter
ENST00000523297.5:c.238C>T ENSP00000427946.1:p.Arg80Ter
XM_005251120.2:c.238C>T XP_005251177.1:p.Arg80Ter
XM_011517409.1:c.682C>T XP_011515711.1:p.Arg228Ter
XM_011517410.1:c.682C>T XP_011515712.1:p.Arg228Ter
XM_017014113.2:c.682C>T XP_016869602.1:p.Arg228Ter