Canonical Allele Identifier: CA326488780
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431157
ClinVar RCV Id: RCV000496168
dbSNP Id: rs932845258
gnomAD v3: X-8597153-C-T
gnomAD v4: X-8597153-C-T
MyVariant Identifiers: chrX:g.8565194C>T (hg19) chrX:g.8597153C>T (hg38)
PubMed: PMID:28708303
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8597153C>T , CM000685.2:g.8597153C>T GRCh38
NC_000023.10:g.8565194C>T , CM000685.1:g.8565194C>T GRCh37
NC_000023.9:g.8525194C>T NCBI36
NG_007088.1:g.140034G>A
NG_007088.2:g.140034G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.422G>A MANE Select ENSP00000262648.3:p.Ser141Asn
ENST00000262648.7:c.422G>A ENSP00000262648.3:p.Ser141Asn
ENST00000619786.1:c.419G>A ENSP00000478734.1:p.Ser140Asn
NM_000216.2:c.422G>A NP_000207.2:p.Ser141Asn
XM_005274501.3:c.422G>A XP_005274558.1:p.Ser141Asn
NM_000216.3:c.422G>A NP_000207.2:p.Ser141Asn
XM_005274501.4:c.422G>A XP_005274558.1:p.Ser141Asn
NM_000216.4:c.422G>A MANE Select NP_000207.2:p.Ser141Asn
Search 100 bp 5'
Search 100 bp 3'