Canonical Allele Identifier: CA4874202
Community Standard Title: NM_014846.4(WASHC5):c.186+1G>C
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125083712C>G , CM000670.2:g.125083712C>G GRCh38
NC_000008.10:g.126095954C>G , CM000670.1:g.126095954C>G GRCh37
NC_000008.9:g.126165136C>G NCBI36
NG_012636.1:g.13108G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.186+1G>C MANE Select NP_055661.3:n.186+1G>C
ENST00000318410.12:c.186+1G>C MANE Select ENSP00000318016.7:n.186+1G>C
NM_001330609.1:c.-258-454G>C NP_001317538.1:n.-258-454G>C
NM_001330609.2:c.-258-454G>C NP_001317538.1:n.-258-454G>C
NM_014846.3:c.186+1G>C NP_055661.3:n.186+1G>C
ENST00000318410.11:c.186+1G>C ENSP00000318016.7:n.186+1G>C
ENST00000517845.5:c.-112-1245G>C ENSP00000429676.1:n.-112-1245G>C
ENST00000519340.5:n.269+1G>C
ENST00000521109.1:n.364+123G>C
ENST00000523297.5:c.-258-454G>C ENSP00000427946.1:n.-258-454G>C
ENST00000523397.1:n.144+1G>C
XM_005251120.2:c.-258-454G>C XP_005251177.1:n.-258-454G>C
XM_011517409.1:c.186+1G>C XP_011515711.1:n.186+1G>C
XM_011517410.1:c.186+1G>C XP_011515712.1:n.186+1G>C
XM_017014113.2:c.186+1G>C XP_016869602.1:n.186+1G>C