Canonical Allele Identifier: CA372266874
Community Standard Title: NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125081668G>A , CM000670.2:g.125081668G>A GRCh38
NC_000008.10:g.126093910G>A , CM000670.1:g.126093910G>A GRCh37
NC_000008.9:g.126163092G>A NCBI36
NG_012636.1:g.15152C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.511C>T MANE Select NP_055661.3:p.Arg171Ter
ENST00000318410.12:c.511C>T MANE Select ENSP00000318016.7:p.Arg171Ter
NM_001330609.1:c.67C>T NP_001317538.1:p.Arg23Ter
NM_001330609.2:c.67C>T NP_001317538.1:p.Arg23Ter
NM_014846.3:c.511C>T NP_055661.3:p.Arg171Ter
ENST00000318410.11:c.511C>T ENSP00000318016.7:p.Arg171Ter
ENST00000517845.5:c.67C>T ENSP00000429676.1:p.Arg23Ter
ENST00000523297.5:c.67C>T ENSP00000427946.1:p.Arg23Ter
XM_005251120.2:c.67C>T XP_005251177.1:p.Arg23Ter
XM_011517409.1:c.511C>T XP_011515711.1:p.Arg171Ter
XM_011517410.1:c.511C>T XP_011515712.1:p.Arg171Ter
XM_017014113.2:c.511C>T XP_016869602.1:p.Arg171Ter