Canonical Allele Identifier: CA372268848
Community Standard Title: NM_014846.4(WASHC5):c.2T>C (p.Met1Thr)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125083897A>G , CM000670.2:g.125083897A>G GRCh38
NC_000008.10:g.126096139A>G , CM000670.1:g.126096139A>G GRCh37
NC_000008.9:g.126165321A>G NCBI36
NG_012636.1:g.12923T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.2T>C MANE Select NP_055661.3:p.Met1Thr
ENST00000318410.12:c.2T>C MANE Select ENSP00000318016.7:p.Met1Thr
NM_001330609.1:c.-258-639T>C NP_001317538.1:n.-258-639T>C
NM_001330609.2:c.-258-639T>C NP_001317538.1:n.-258-639T>C
NM_014846.3:c.2T>C NP_055661.3:p.Met1Thr
ENST00000318410.11:c.2T>C ENSP00000318016.7:p.Met1Thr
ENST00000517845.5:c.-112-1430T>C ENSP00000429676.1:n.-112-1430T>C
ENST00000519340.5:n.206-121T>C
ENST00000521109.1:n.302T>C
ENST00000523297.5:c.-258-639T>C ENSP00000427946.1:n.-258-639T>C
XM_005251120.2:c.-258-639T>C XP_005251177.1:n.-258-639T>C
XM_011517409.1:c.2T>C XP_011515711.1:p.Met1Thr
XM_011517410.1:c.2T>C XP_011515712.1:p.Met1Thr
XM_017014113.2:c.2T>C XP_016869602.1:p.Met1Thr