Canonical Allele Identifier: CA4874019
Community Standard Title: NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125076477C>G , CM000670.2:g.125076477C>G GRCh38
NC_000008.10:g.126088719C>G , CM000670.1:g.126088719C>G GRCh37
NC_000008.9:g.126157901C>G NCBI36
NG_012636.1:g.20343G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.735G>C MANE Select NP_055661.3:p.Glu245Asp
ENST00000318410.12:c.735G>C MANE Select ENSP00000318016.7:p.Glu245Asp
NM_001330609.1:c.291G>C NP_001317538.1:p.Glu97Asp
NM_001330609.2:c.291G>C NP_001317538.1:p.Glu97Asp
NM_014846.3:c.735G>C NP_055661.3:p.Glu245Asp
ENST00000318410.11:c.735G>C ENSP00000318016.7:p.Glu245Asp
ENST00000517845.5:c.291G>C ENSP00000429676.1:p.Glu97Asp
ENST00000523297.5:c.291G>C ENSP00000427946.1:p.Glu97Asp
XM_005251120.2:c.291G>C XP_005251177.1:p.Glu97Asp
XM_011517409.1:c.735G>C XP_011515711.1:p.Glu245Asp
XM_011517410.1:c.735G>C XP_011515712.1:p.Glu245Asp
XM_017014113.2:c.735G>C XP_016869602.1:p.Glu245Asp