Canonical Allele Identifier: CA372268083
Community Standard Title: NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125083252C>T , CM000670.2:g.125083252C>T GRCh38
NC_000008.10:g.126095494C>T , CM000670.1:g.126095494C>T GRCh37
NC_000008.9:g.126164676C>T NCBI36
NG_012636.1:g.13568G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.193G>A MANE Select NP_055661.3:p.Glu65Lys
ENST00000318410.12:c.193G>A MANE Select ENSP00000318016.7:p.Glu65Lys
NM_001330609.1:c.-252G>A NP_001317538.1:n.-252G>A
NM_001330609.2:c.-252G>A NP_001317538.1:n.-252G>A
NM_014846.3:c.193G>A NP_055661.3:p.Glu65Lys
ENST00000318410.11:c.193G>A ENSP00000318016.7:p.Glu65Lys
ENST00000517845.5:c.-112-785G>A ENSP00000429676.1:n.-112-785G>A
ENST00000519340.5:n.276G>A
ENST00000521109.1:n.371G>A
ENST00000523297.5:c.-252G>A ENSP00000427946.1:n.-252G>A
ENST00000523397.1:n.151G>A
XM_005251120.2:c.-252G>A XP_005251177.1:n.-252G>A
XM_011517409.1:c.193G>A XP_011515711.1:p.Glu65Lys
XM_011517410.1:c.193G>A XP_011515712.1:p.Glu65Lys
XM_017014113.2:c.193G>A XP_016869602.1:p.Glu65Lys