Canonical Allele Identifier: CA4873397
Gene: WASHC5 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.125039861T>C
GRCh37 chr8:g.126052103T>C
Revel Score:
ENST00000523273 0.547
ENST00000318410 (MANE Select) 0.372
ENST00000517845 0.372
gnomAD v2:
8:126052103 T / C
gnomAD v3:
8:125039861 T / C
gnomAD v4:
chr8-125039861-T-C
Joint Max Group AF 0.00005434 (AMR)
Genomes Max Group AF 0.00005286 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV000489354
RCV001848858
ClinVar Variation:
427183
dbSNP:
748167994
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125039861T>C , CM000670.2:g.125039861T>C GRCh38
NC_000008.10:g.126052103T>C , CM000670.1:g.126052103T>C GRCh37
NC_000008.9:g.126121285T>C NCBI36
NG_012636.1:g.56959A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318410.12:c.2888A>G MANE Select ENSP00000318016.7:p.Asn963Ser
ENST00000318410.11:c.2888A>G ENSP00000318016.7:p.Asn963Ser
ENST00000517845.5:c.2444A>G ENSP00000429676.1:p.Asn815Ser
NM_014846.3:c.2888A>G NP_055661.3:p.Asn963Ser
XM_005251120.2:c.2444A>G XP_005251177.1:p.Asn815Ser
XM_011517409.1:c.2888A>G XP_011515711.1:p.Asn963Ser
XM_011517410.1:c.2888A>G XP_011515712.1:p.Asn963Ser
NM_001330609.1:c.2444A>G NP_001317538.1:p.Asn815Ser
XM_017014113.2:c.2888A>G XP_016869602.1:p.Asn963Ser
NM_014846.4:c.2888A>G MANE Select NP_055661.3:p.Asn963Ser
NM_001330609.2:c.2444A>G NP_001317538.1:p.Asn815Ser
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