Canonical Allele Identifier: CA236317
Gene: WASHC5 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.125059395C>T
GRCh37 chr8:g.126071637C>T
Revel Score:
ENST00000318410 (MANE Select) 0.869
ENST00000517845 0.869
gnomAD v2:
8:126071637 C / T
gnomAD v3:
8:125059395 C / T
gnomAD v4:
chr8-125059395-C-T
Joint Max Group AF 0.00000615 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000575 (NFE)
ClinVar RCV:
RCV000171420
RCV001158802
ClinVar Variation:
191232
dbSNP:
749056160
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125059395C>T , CM000670.2:g.125059395C>T GRCh38
NC_000008.10:g.126071637C>T , CM000670.1:g.126071637C>T GRCh37
NC_000008.9:g.126140819C>T NCBI36
NG_012636.1:g.37425G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318410.12:c.1669G>A MANE Select ENSP00000318016.7:p.Ala557Thr
ENST00000318410.11:c.1669G>A ENSP00000318016.7:p.Ala557Thr
ENST00000517845.5:c.1225G>A ENSP00000429676.1:p.Ala409Thr
NM_014846.3:c.1669G>A NP_055661.3:p.Ala557Thr
XM_005251120.2:c.1225G>A XP_005251177.1:p.Ala409Thr
XM_011517409.1:c.1669G>A XP_011515711.1:p.Ala557Thr
XM_011517410.1:c.1669G>A XP_011515712.1:p.Ala557Thr
NM_001330609.1:c.1225G>A NP_001317538.1:p.Ala409Thr
XM_017014113.2:c.1669G>A XP_016869602.1:p.Ala557Thr
NM_014846.4:c.1669G>A MANE Select NP_055661.3:p.Ala557Thr
NM_001330609.2:c.1225G>A NP_001317538.1:p.Ala409Thr
Search 100 bp 5'
Search 100 bp 3'