Canonical Allele Identifier: CA326499252
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs960191764
gnomAD v2: X-8699942-G-T
gnomAD v3: X-8731901-G-T
gnomAD v4: X-8731901-G-T
MyVariant Identifiers: chrX:g.8699942G>T (hg19) chrX:g.8731901G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731901G>T , CM000685.2:g.8731901G>T GRCh38
NC_000023.10:g.8699942G>T , CM000685.1:g.8699942G>T GRCh37
NC_000023.9:g.8659942G>T NCBI36
NG_007088.1:g.5286C>A
NG_007088.2:g.5286C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.136C>A MANE Select ENSP00000262648.3:p.Arg46Ser
ENST00000262648.7:c.136C>A ENSP00000262648.3:p.Arg46Ser
ENST00000619786.1:c.134C>A ENSP00000478734.1:p.Ala45Glu
NM_000216.2:c.136C>A NP_000207.2:p.Arg46Ser
XM_005274501.3:c.136C>A XP_005274558.1:p.Arg46Ser
NM_000216.3:c.136C>A NP_000207.2:p.Arg46Ser
XM_005274501.4:c.136C>A XP_005274558.1:p.Arg46Ser
NM_000216.4:c.136C>A MANE Select NP_000207.2:p.Arg46Ser
Search 100 bp 5'
Search 100 bp 3'