Canonical Allele Identifier: CA4873900
Community Standard Title: NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125067692C>T , CM000670.2:g.125067692C>T GRCh38
NC_000008.10:g.126079934C>T , CM000670.1:g.126079934C>T GRCh37
NC_000008.9:g.126149116C>T NCBI36
NG_012636.1:g.29128G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.1178G>A MANE Select NP_055661.3:p.Arg393His
ENST00000318410.12:c.1178G>A MANE Select ENSP00000318016.7:p.Arg393His
NM_001330609.1:c.734G>A NP_001317538.1:p.Arg245His
NM_001330609.2:c.734G>A NP_001317538.1:p.Arg245His
NM_014846.3:c.1178G>A NP_055661.3:p.Arg393His
ENST00000318410.11:c.1178G>A ENSP00000318016.7:p.Arg393His
ENST00000517845.5:c.734G>A ENSP00000429676.1:p.Arg245His
XM_005251120.2:c.734G>A XP_005251177.1:p.Arg245His
XM_011517409.1:c.1178G>A XP_011515711.1:p.Arg393His
XM_011517410.1:c.1178G>A XP_011515712.1:p.Arg393His
XM_017014113.2:c.1178G>A XP_016869602.1:p.Arg393His