Canonical Allele Identifier: CA5523375
Gene: ATOH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 812673
ClinVar RCV Id: RCV001003480 RCV001246055
dbSNP Id: rs754494518
ExAC: 10:69991259 G / A
gnomAD v2: 10-69991259-G-A
gnomAD v3: 10-68231502-G-A
gnomAD v4: 10-68231502-G-A
MyVariant Identifiers: chr10:g.69991259G>A (hg19) chr10:g.68231502G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68231502G>A , CM000672.2:g.68231502G>A GRCh38
NC_000010.10:g.69991259G>A , CM000672.1:g.69991259G>A GRCh37
NC_000010.9:g.69661265G>A NCBI36
NG_031934.1:g.5612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373673.5:c.176C>T MANE Select ENSP00000362777.3:p.Ala59Val
ENST00000373673.4:c.176C>T ENSP00000362777.3:p.Ala59Val
NM_145178.3:c.176C>T NP_660161.1:p.Ala59Val
NM_145178.4:c.176C>T MANE Select NP_660161.1:p.Ala59Val
Search 100 bp 5'
Search 100 bp 3'