Canonical Allele Identifier: CA326499254
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2306981
ClinVar RCV Id: RCV002879320 RCV003435915
dbSNP Id: rs990367646
gnomAD v2: X-8699999-G-C
gnomAD v3: X-8731958-G-C
gnomAD v4: X-8731958-G-C
MyVariant Identifiers: chrX:g.8699999G>C (hg19) chrX:g.8731958G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731958G>C , CM000685.2:g.8731958G>C GRCh38
NC_000023.10:g.8699999G>C , CM000685.1:g.8699999G>C GRCh37
NC_000023.9:g.8659999G>C NCBI36
NG_007088.1:g.5229C>G
NG_007088.2:g.5229C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.79C>G MANE Select ENSP00000262648.3:p.Pro27Ala
ENST00000262648.7:c.79C>G ENSP00000262648.3:p.Pro27Ala
ENST00000619786.1:c.78C>G ENSP00000478734.1:p.Ala26=
NM_000216.2:c.79C>G NP_000207.2:p.Pro27Ala
XM_005274501.3:c.79C>G XP_005274558.1:p.Pro27Ala
NM_000216.3:c.79C>G NP_000207.2:p.Pro27Ala
XM_005274501.4:c.79C>G XP_005274558.1:p.Pro27Ala
NM_000216.4:c.79C>G MANE Select NP_000207.2:p.Pro27Ala
Search 100 bp 5'
Search 100 bp 3'