Canonical Allele Identifier: CA185889
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180157
ClinVar RCV Id: RCV000156964 RCV000156963 RCV001850175
dbSNP Id: rs727505374
gnomAD v4: X-8539744-G-A
MyVariant Identifiers: chrX:g.8507785G>A (hg19) chrX:g.8539744G>A (hg38)
PubMed: PMID:25636053
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8539744G>A , CM000685.2:g.8539744G>A GRCh38
NC_000023.10:g.8507785G>A , CM000685.1:g.8507785G>A GRCh37
NC_000023.9:g.8467785G>A NCBI36
NG_007088.1:g.197443C>T
NG_007088.2:g.197443C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.1369C>T MANE Select ENSP00000262648.3:p.Arg457Ter
ENST00000262648.7:c.1369C>T ENSP00000262648.3:p.Arg457Ter
ENST00000619786.1:c.1366C>T ENSP00000478734.1:p.Arg456Ter
NM_000216.2:c.1369C>T NP_000207.2:p.Arg457Ter
NM_000216.3:c.1369C>T NP_000207.2:p.Arg457Ter
NM_000216.4:c.1369C>T MANE Select NP_000207.2:p.Arg457Ter
Search 100 bp 5'
Search 100 bp 3'