Canonical Allele Identifier: CA4873272
Gene: WASHC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 361712
ClinVar RCV Id: RCV000264449 RCV000465535 RCV000607572 RCV001088113 RCV001848712 RCV002502393 RCV003932495
dbSNP Id: rs34569226
ExAC: 8:126044593 T / C
gnomAD v2: 8-126044593-T-C
gnomAD v3: 8-125032351-T-C
gnomAD v4: 8-125032351-T-C
MyVariant Identifiers: chr8:g.126044593T>C (hg19) chr8:g.125032351T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125032351T>C , CM000670.2:g.125032351T>C GRCh38
NC_000008.10:g.126044593T>C , CM000670.1:g.126044593T>C GRCh37
NC_000008.9:g.126113775T>C NCBI36
NG_012636.1:g.64469A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318410.12:c.3225A>G MANE Select ENSP00000318016.7:p.Pro1075=
ENST00000318410.11:c.3225A>G ENSP00000318016.7:p.Pro1075=
ENST00000517845.5:c.2781A>G ENSP00000429676.1:p.Pro927=
ENST00000519042.2:n.364A>G
NM_014846.3:c.3225A>G NP_055661.3:p.Pro1075=
XM_005251120.2:c.2781A>G XP_005251177.1:p.Pro927=
NM_001330609.1:c.2781A>G NP_001317538.1:p.Pro927=
XM_017014113.2:c.3225A>G XP_016869602.1:p.Pro1075=
NM_014846.4:c.3225A>G MANE Select NP_055661.3:p.Pro1075=
NM_001330609.2:c.2781A>G NP_001317538.1:p.Pro927=
Search 100 bp 5'
Search 100 bp 3'