Canonical Allele Identifier: CA202092
Gene: WASHC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 188277
ClinVar RCV Id: RCV000176752 RCV000327803 RCV000443176 RCV001081808 RCV001847794
dbSNP Id: rs138407503
ExAC: 8:126044499 C / T
gnomAD v2: 8-126044499-C-T
gnomAD v3: 8-125032257-C-T
gnomAD v4: 8-125032257-C-T
COSMIC: COSM328239
MyVariant Identifiers: chr8:g.126044499C>T (hg19) chr8:g.125032257C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125032257C>T , CM000670.2:g.125032257C>T GRCh38
NC_000008.10:g.126044499C>T , CM000670.1:g.126044499C>T GRCh37
NC_000008.9:g.126113681C>T NCBI36
NG_012636.1:g.64563G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318410.12:c.3319G>A MANE Select ENSP00000318016.7:p.Val1107Met
ENST00000318410.11:c.3319G>A ENSP00000318016.7:p.Val1107Met
ENST00000517845.5:c.2875G>A ENSP00000429676.1:p.Val959Met
ENST00000519042.2:n.458G>A
NM_014846.3:c.3319G>A NP_055661.3:p.Val1107Met
XM_005251120.2:c.2875G>A XP_005251177.1:p.Val959Met
NM_001330609.1:c.2875G>A NP_001317538.1:p.Val959Met
XM_017014113.2:c.3319G>A XP_016869602.1:p.Val1107Met
NM_014846.4:c.3319G>A MANE Select NP_055661.3:p.Val1107Met
NM_001330609.2:c.2875G>A NP_001317538.1:p.Val959Met
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