Canonical Allele Identifier: CA412024575
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2429405
ClinVar RCV Id: RCV003126342
dbSNP Id: rs1347238083
gnomAD v3: X-8731960-C-T
gnomAD v4: X-8731960-C-T
MyVariant Identifiers: chrX:g.8700001C>T (hg19) chrX:g.8731960C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731960C>T , CM000685.2:g.8731960C>T GRCh38
NC_000023.10:g.8700001C>T , CM000685.1:g.8700001C>T GRCh37
NC_000023.9:g.8660001C>T NCBI36
NG_007088.1:g.5227G>A
NG_007088.2:g.5227G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.77G>A MANE Select ENSP00000262648.3:p.Gly26Asp
ENST00000262648.7:c.77G>A ENSP00000262648.3:p.Gly26Asp
ENST00000619786.1:c.76G>A ENSP00000478734.1:p.Ala26Thr
NM_000216.2:c.77G>A NP_000207.2:p.Gly26Asp
XM_005274501.3:c.77G>A XP_005274558.1:p.Gly26Asp
NM_000216.3:c.77G>A NP_000207.2:p.Gly26Asp
XM_005274501.4:c.77G>A XP_005274558.1:p.Gly26Asp
NM_000216.4:c.77G>A MANE Select NP_000207.2:p.Gly26Asp
Search 100 bp 5'
Search 100 bp 3'