Canonical Allele Identifier: CA10343869
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 703012
ClinVar RCV Id: RCV002064703 RCV002539129 RCV003955686
dbSNP Id: rs778437210
ExAC: X:8700002 C / G
gnomAD v2: X-8700002-C-G
gnomAD v3: X-8731961-C-G
gnomAD v4: X-8731961-C-G
MyVariant Identifiers: chrX:g.8700002C>G (hg19) chrX:g.8700002_8700023delinsGGGCCGCCAGGCAGCCGCTGGA (hg19) chrX:g.8731961C>G (hg38) chrX:g.8731961_8731982delinsGGGCCGCCAGGCAGCCGCTGGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731961C>G , CM000685.2:g.8731961C>G GRCh38
NC_000023.10:g.8700002C>G , CM000685.1:g.8700002C>G GRCh37
NC_000023.9:g.8660002C>G NCBI36
NG_007088.1:g.5226G>C
NG_007088.2:g.5226G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.76G>C MANE Select ENSP00000262648.3:p.Gly26Arg
ENST00000262648.7:c.76G>C ENSP00000262648.3:p.Gly26Arg
ENST00000619786.1:c.75G>C ENSP00000478734.1:p.Pro25=
NM_000216.2:c.76G>C NP_000207.2:p.Gly26Arg
XM_005274501.3:c.76G>C XP_005274558.1:p.Gly26Arg
NM_000216.3:c.76G>C NP_000207.2:p.Gly26Arg
XM_005274501.4:c.76G>C XP_005274558.1:p.Gly26Arg
NM_000216.4:c.76G>C MANE Select NP_000207.2:p.Gly26Arg
Search 100 bp 5'
Search 100 bp 3'