Canonical Allele Identifier: CA185309384
Gene: WASHC5 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.125061429G>A
GRCh37 chr8:g.126073671G>A
gnomAD v2:
8:126073671 G / A
gnomAD v3:
8:125061429 G / A
gnomAD v4:
chr8-125061429-G-A
Joint Max Group AF 0.08975894 (AFR)
Genomes Max Group AF 0.08975894 (AFR)
ClinVar RCV:
RCV001680006
ClinVar Variation:
1268901
dbSNP:
16900305
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125061429G>A , CM000670.2:g.125061429G>A GRCh38
NC_000008.10:g.126073671G>A , CM000670.1:g.126073671G>A GRCh37
NC_000008.9:g.126142853G>A NCBI36
NG_012636.1:g.35391C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318410.12:c.1409-235C>T MANE Select ENSP00000318016.7:n.1409-235C>T
ENST00000318410.11:c.1409-235C>T ENSP00000318016.7:n.1409-235C>T
ENST00000517845.5:c.965-235C>T ENSP00000429676.1:n.965-235C>T
NM_014846.3:c.1409-235C>T NP_055661.3:n.1409-235C>T
XM_005251120.2:c.965-235C>T XP_005251177.1:n.965-235C>T
XM_011517409.1:c.1409-235C>T XP_011515711.1:n.1409-235C>T
XM_011517410.1:c.1409-235C>T XP_011515712.1:n.1409-235C>T
NM_001330609.1:c.965-235C>T NP_001317538.1:n.965-235C>T
XM_017014113.2:c.1409-235C>T XP_016869602.1:n.1409-235C>T
NM_014846.4:c.1409-235C>T MANE Select NP_055661.3:n.1409-235C>T
NM_001330609.2:c.965-235C>T NP_001317538.1:n.965-235C>T
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