Canonical Allele Identifier: CA5523393
Gene: ATOH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 963180
ClinVar RCV Id: RCV001237176
dbSNP Id: rs751214066
ExAC: 10:69991311 G / C
gnomAD v2: 10-69991311-G-C
gnomAD v4: 10-68231554-G-C
MyVariant Identifiers: chr10:g.69991311G>C (hg19) chr10:g.68231554G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68231554G>C , CM000672.2:g.68231554G>C GRCh38
NC_000010.10:g.69991311G>C , CM000672.1:g.69991311G>C GRCh37
NC_000010.9:g.69661317G>C NCBI36
NG_031934.1:g.5560C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373673.5:c.124C>G MANE Select ENSP00000362777.3:p.Arg42Gly
ENST00000373673.4:c.124C>G ENSP00000362777.3:p.Arg42Gly
NM_145178.3:c.124C>G NP_660161.1:p.Arg42Gly
NM_145178.4:c.124C>G MANE Select NP_660161.1:p.Arg42Gly
Search 100 bp 5'
Search 100 bp 3'